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1. Early mortality in STXBP1-related disorders

Author

Furia, Francesca, Rigby, Charlene Son, Scheffer, Ingrid E., Allen, Nicholas, Baker, Kate, Hengsbach, Christian, Kegele, Josua, Goss, James, Gorman, Kathleen, Mala, Misra-Isrie, Nicita, Francesco, Allan, Talia, Spalice, Alberto, Weber, Yvonne, Rubboli, Guido, Møller, Rikke S., and Gardella, Elena

Published
2024
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2. Epilepsy as a Novel Phenotype of BPTF-Related Disorders

Author

Ferretti, Alessandro, Furlan, Margherita, Glinton, Kevin E., Fenger, Christina D., Boschann, Felix, Amlie-Wolf, Louise, Zeidler, Shimriet, Moretti, Raffaella, Stoltenburg, Corinna, Tarquinio, Daniel C., Furia, Francesca, Parisi, Pasquale, Rubboli, Guido, Devinsky, Orrin, Mignot, Cyril, Gripp, Karen W., Møller, Rikke S., Yang, Yaping, Stankiewicz, Pawel, and Gardella, Elena

Published
2024
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4. SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy

Author

Roshandel, Delnaz, Sanders, Eric J., Shakeshaft, Amy, Panjwani, Naim, Lin, Fan, Collingwood, Amber, Hall, Anna, Keenan, Katherine, Deneubourg, Celine, Mirabella, Filippo, Topp, Simon, Zarubova, Jana, Thomas, Rhys H., Talvik, Inga, Syvertsen, Marte, Striano, Pasquale, Smith, Anna B., Selmer, Kaja K., Rubboli, Guido, Orsini, Alessandro, Ng, Ching Ching, Møller, Rikke S., Lim, Kheng Seang, Hamandi, Khalid, Greenberg, David A., Gesche, Joanna, Gardella, Elena, Fong, Choong Yi, Beier, Christoph P., Andrade, Danielle M., Jungbluth, Heinz, Richardson, Mark P., Pastore, Annalisa, Fanto, Manolis, Pal, Deb K., and Strug, Lisa J.

Published
2023
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5. Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

Author

Lyu, Hang, Boßelmann, Christian M., Johannesen, Katrine M., Koko, Mahmoud, Ortigoza-Escobar, Juan Dario, Aguilera-Albesa, Sergio, Garcia-Navas Núñez, Deyanira, Linnankivi, Tarja, Gaily, Eija, van Ruiten, Henriette J.A., Richardson, Ruth, Betzler, Cornelia, Horvath, Gabriella, Brilstra, Eva, Geerdink, Niels, Orsucci, Daniele, Tessa, Alessandra, Gardella, Elena, Fleszar, Zofia, Schöls, Ludger, Lerche, Holger, Møller, Rikke S., and Liu, Yuanyuan

Published
2023
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8. Electro‐Clinical Features and Functional Connectivity Analysis in SYN1‐Related Epilepsy.

Author

Moya Quiros, Vincent, Adham, Ahmed, Convers, Philippe, Lesca, Gaetan, Mauguiere, François, Soulier, Hugo, Arzimanoglou, Alexis, Bayat, Allan, Braakman, Hilde, Camdessanche, Jean‐Philippe, Casenave, Philippe, Chaton, Laurence, Chaix, Yves, Chochoi, Maxime, Depienne, Christel, Desportes, Vincent, De Ridder, Jessie, Dinkelacker, Vera, Gardella, Elena, and Kluger, Gerhard J.

Subjects
EPILEPSY, PEOPLE with epilepsy, FUNCTIONAL connectivity, FREQUENCY spectra, POWER spectra, ELECTRONOGRAPHY
Abstract

Objective: There is currently scarce data on the electroclinical characteristics of epilepsy associated with synapsin 1 (SYN1) pathogenic variations. We examined clinical and electro‐encephalographic (EEG) features in patients with epilepsy and SYN1 variants, with the aim of identifying a distinctive electroclinical pattern. Methods: In this retrospective multicenter study, we collected and reviewed demographic, genetic, and epilepsy data of 19 male patients with SYN1 variants. Specifically, we analyzed interictal EEG data for all patients, and electro‐clinical data from 10 epileptic seizures in 5 patients, using prolonged video‐EEG monitoring recordings. Inter‐ictal EEG functional connectivity parameters and frequency spectrum of the 10 patients over 12 years of age, were computed and compared with those of 56 age‐ and sex‐matched controls. Results: The main electroclinical features of epilepsy in patients with SYN1 were (1) EEG background and organization mainly normal; (2) interictal abnormalities are often rare or not visible on EEG; (3) more than 60% of patients had reflex seizures (cutaneous contact with water and defecation being the main triggers) isolated or associated with spontaneous seizures; (4) electro‐clinical semiology of seizures was mainly temporal or temporo‐insulo/perisylvian with a notable autonomic component; and (5) ictal EEG showed a characteristic rhythmic theta/delta activity predominating in temporo‐perisylvian regions at the beginning of most seizures. Comparing patients with SYN1 to healthy subjects, we observed a shift to lower frequency bands in power spectrum of interictal EEG and an increased connectivity in both temporal regions. Interpretation: A distinct epilepsy syndrome emerges in patients with SYN1, with a rather characteristic clinical and EEG pattern suggesting predominant temporo‐insular involvement. ANN NEUROL 2025;97:34–50 [ABSTRACT FROM AUTHOR]

Published
2025
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9. Sleep disturbances in SCN8A‐related disorders.

Author

Furia, Francesca, Johannesen, Katrine M., Bonardi, Claudia M., Previtali, Roberto, Aledo‐Serrano, Angel, Mastrangelo, Massimo, Favaro, Jacopo, Masnada, Silvia, di Micco, Valentina, Proietti, Jacopo, Veggiotti, Pierangelo, Rubboli, Guido, Cantalupo, Gaetano, Olofsson, Kern, Møller, Rikke S., and Gardella, Elena

Subjects
SLEEP duration, SLEEP latency, SODIUM channels, SEIZURES (Medicine), RAPID eye movement sleep, SLEEP, SLEEP interruptions, SLOW wave sleep, NON-REM sleep
Abstract

Copyright of Epilepsia Open is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Published
2024
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10. Quantitative EEG biomarkers for STXBP1‐related disorders.

Author

Cossu, Alberto, Furia, Francesca, Proietti, Jacopo, Ancora, Caterina, Reale, Chiara, Darra, Francesca, Previtali, Roberto, Bernardina, Bernardo Dalla, Rubboli, Guido, Beniczky, Sandor, Møller, Rikke S., Cantalupo, Gaetano, and Gardella, Elena

Subjects
FRONTAL lobe, REGIONAL differences, ELECTROENCEPHALOGRAPHY, STANDARD deviations, PEOPLE with epilepsy
Abstract

Objective: EEG patterns and quantitative EEG (qEEG) features have been poorly explored in monogenic epilepsies. Herein, we investigate regional differences in EEG frequency composition in patients with STXBP1 developmental and epileptic encephalopathy (STXBP1‐DEE). Methods: We conducted a retrospective study collecting electroclinical data of patients with STXBP1‐DEE and two control groups of patients with DEEs of different etiologies and typically developing individuals matched for age and sex. We performed a (1) visual EEG assessment, (b) qEEG analysis, and (c) electrical source imaging (ESI). We quantified the relative power (RP) of four frequency bands (α β, θ, δ), in two electrode groups (anterior/posterior), and compared their averages and dynamics (standard deviation [SD] over time). The ESI was performed by applying the standard Distributed Source Modeling algorithm. Results: We analyzed 42 EEG studies in 19 patients with STXBP1‐DEE (10 female), with a median age at recordings of 9.6 years (range 9 months to 29 years). The δRP was higher in recordings of STXBP1‐DEE (p <.001) compared to both control groups, suggesting the pathogenicity and STXBP1‐specificity of these findings. In STXBP1‐DEE, the δRP was significantly higher in the anterior electrode group compared to the posterior one (p =.003). There was no correlation between the anterior δRP and the epilepsy focus, age at recordings, and concomitant medications The ESI modeling of this activity showed a widespread involvement of the dorsomesial frontal cortex, suggesting a large corticosubcortical pathologic network. Finally, we identified two groups of recordings: cluster.1 with higher anterior δRP and low dynamics and cluster.2 with lower δRP and higher dynamics. Patients in cluster.1 had a more severe epilepsy and neurological phenotype compared to patients in cluster 2. Significance: The qEEG analysis showed a predominant frontal slow activity as a specific STXBP1 feature that correlates with the severity of the phenotype and may represent a biomarker for prospective longitudinal studies of STXBP1‐DEE. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Structural mapping of GABRB3 variants reveals genotype–phenotype correlations

Author

Johannesen, Katrine M., Iqbal, Sumaiya, Guazzi, Milena, Mohammadi, Nazanin A., Pérez-Palma, Eduardo, Schaefer, Elise, De Saint Martin, Anne, Abiwarde, Marie Therese, McTague, Amy, Pons, Roser, Piton, Amelie, Kurian, Manju A., Ambegaonkar, Gautam, Firth, Helen, Sanchis-Juan, Alba, Deprez, Marie, Jansen, Katrien, De Waele, Liesbeth, Briltra, Eva H., Verbeek, Nienke E., van Kempen, Marjan, Fazeli, Walid, Striano, Pasquale, Zara, Federico, Visser, Gerhard, Braakman, Hilde M.H., Haeusler, Martin, Elbracht, Miriam, Vaher, Ulvi, Smol, Thomas, Lemke, Johannes R., Platzer, Konrad, Kennedy, Joanna, Klein, Karl Martin, Au, Ping Yee Billie, Smyth, Kimberly, Kaplan, Julie, Thomas, Morgan, Dewenter, Malin K., Dinopoulos, Argirios, Campbell, Arthur J., Lal, Dennis, Lederer, Damien, Liao, Vivian W.Y., Ahring, Philip K., Møller, Rikke S., and Gardella, Elena

Published
2022
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14. Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

Author

Absalom, Nathan L., Liao, Vivian W. Y., Johannesen, Katrine M. H., Gardella, Elena, Jacobs, Julia, Lesca, Gaetan, Gokce-Samar, Zeynep, Arzimanoglou, Alexis, Zeidler, Shimriet, Striano, Pasquale, Meyer, Pierre, Benkel-Herrenbrueck, Ira, Mero, Inger-Lise, Rummel, Jutta, Chebib, Mary, Møller, Rikke S., and Ahring, Philip K.

Published
2022
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15. Sex-specific disease modifiers in juvenile myoclonic epilepsy

Author

Shakeshaft, Amy, Panjwani, Naim, Collingwood, Amber, Crudgington, Holly, Hall, Anna, Andrade, Danielle M., Beier, Christoph P., Fong, Choong Yi, Gardella, Elena, Gesche, Joanna, Greenberg, David A., Hamandi, Khalid, Koht, Jeanette, Lim, Kheng Seang, Møller, Rikke S., Ng, Ching Ching, Orsini, Alessandro, Rees, Mark I., Rubboli, Guido, Selmer, Kaja K., Striano, Pasquale, Syvertsen, Marte, Thomas, Rhys H., Zarubova, Jana, Richardson, Mark P., Strug, Lisa J., and Pal, Deb K.

Published
2022
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17. Defining the phenotypic spectrum of SLC6A1 mutations

Author

Johannesen, Katrine M, Gardella, Elena, Linnankivi, Tarja, Courage, Carolina, Martin, Anne Saint, Lehesjoki, Anna‐Elina, Mignot, Cyril, Afenjar, Alexandra, Lesca, Gaetan, Abi‐Warde, Marie‐Thérèse, Chelly, Jamel, Piton, Amélie, Merritt, J Lawrence, Rodan, Lance H, Tan, Wen‐Hann, Bird, Lynne M, Nespeca, Mark, Gleeson, Joseph G, Yoo, Yongjin, Choi, Murim, Chae, Jong‐Hee, Czapansky‐Beilman, Desiree, Reichert, Sara Chadwick, Pendziwiat, Manuela, Verhoeven, Judith S, Schelhaas, Helenius J, Devinsky, Orrin, Christensen, Jakob, Specchio, Nicola, Trivisano, Marina, Weber, Yvonne G, Nava, Caroline, Keren, Boris, Doummar, Diane, Schaefer, Elise, Hopkins, Sarah, Dubbs, Holly, Shaw, Jessica E, Pisani, Laura, Myers, Candace T, Tang, Sha, Tang, Shan, Pal, Deb K, Millichap, John J, Carvill, Gemma L, Helbig, Kathrine L, Mecarelli, Oriano, Striano, Pasquale, Helbig, Ingo, Rubboli, Guido, Mefford, Heather C, and Møller, Rikke S

Subjects
Behavioral and Social Science, Neurodegenerative, Neurosciences, Genetics, Epilepsy, Clinical Research, Brain Disorders, 2.1 Biological and endogenous factors, Aetiology, Neurological, Adolescent, Adult, Anticonvulsants, Ataxia, Child, Child, Preschool, Cohort Studies, Electroencephalography, Epilepsies, Myoclonic, Epilepsies, Partial, Epilepsy, Generalized, Female, GABA Plasma Membrane Transport Proteins, Genetic Association Studies, Humans, Intellectual Disability, Language Development Disorders, Male, Mutation, Mutation, Missense, Neurodevelopmental Disorders, Phenotype, Treatment Outcome, Valproic Acid, Young Adult, epilepsy, epilepsy genetics, MAE, SLC6A1, MAE, SLC6A1, Clinical Sciences, Neurology & Neurosurgery
Abstract

ObjectivePathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients.MethodsWe collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In total, we reviewed the electroclinical data of 34 subjects.ResultsCognitive development was impaired in 33/34 (97%) subjects; 28/34 had mild to moderate ID, with language impairment being the most common feature. Epilepsy was diagnosed in 31/34 cases with mean onset at 3.7 years. Cognitive assessment before epilepsy onset was available in 24/31 subjects and was normal in 25% (6/24), and consistent with mild ID in 46% (11/24) or moderate ID in 17% (4/24). Two patients had speech delay only, and 1 had severe ID. After epilepsy onset, cognition deteriorated in 46% (11/24) of cases. The most common seizure types were absence, myoclonic, and atonic seizures. Sixteen cases fulfilled the diagnostic criteria for MAE. Seven further patients had different forms of generalized epilepsy and 2 had focal epilepsy. Twenty of 31 patients became seizure-free, with valproic acid being the most effective drug. There was no clear-cut correlation between seizure control and cognitive outcome. Electroencephalography (EEG) findings were available in 27/31 patients showing irregular bursts of diffuse 2.5-3.5 Hz spikes/polyspikes-and-slow waves in 25/31. Two patients developed an EEG pattern resembling electrical status epilepticus during sleep. Ataxia was observed in 7/34 cases. We describe 7 truncating and 18 missense variants, including 4 recurrent variants (Gly232Val, Ala288Val, Val342Met, and Gly362Arg).SignificanceMost patients carrying pathogenic SLC6A1 variants have an MAE phenotype with language delay and mild/moderate ID before epilepsy onset. However, ID alone or associated with focal epilepsy can also be observed.

Published
2018

19. Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

Author

Raviglione, Federico, Douzgou, Sofia, Scala, Marcello, Mingarelli, Alessia, D'Arrigo, Stefano, Freri, Elena, Darra, Francesca, Giglio, Sabrina, Bonaglia, Maria C, Pantaleoni, Chiara, Mastrangelo, Massimo, Epifanio, Roberta, Elia, Maurizio, Saletti, Veronica, Morlino, Silvia, Vari, Maria Stella, De Liso, Paola, Pavaine, Julija, Spaccini, Luigina, Cattaneo, Elisa, Gardella, Elena, Møller, Rikke S, Marchese, Francesca, Colonna, Clara, Gandioli, Claudia, Gobbi, Giuseppe, Ram, Dipak, Palumbo, Orazio, Carella, Massimo, Germano, Michele, Tonduti, Davide, De Angelis, Diego, Caputo, Davide, Bergonzini, Patrizia, Novara, Francesca, Zuffardi, Orsetta, Verrotti, Alberto, Orsini, Alessandro, Bonuccelli, Alice, De Muto, Maria Carmela, Trivisano, Marina, Vigevano, Federico, Granata, Tiziana, Bernardina, Bernardo Dalla, Tranchina, Antonia, and Striano, Pasquale

Published
2021
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20. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Author

Stamberger, Hannah, Hammer, Trine B., Gardella, Elena, Vlaskamp, Danique R.M., Bertelsen, Birgitte, Mandelstam, Simone, de Lange, Iris, Zhang, Jing, Myers, Candace T., Fenger, Christina, Afawi, Zaid, Almanza Fuerte, Edith P., Andrade, Danielle M., Balcik, Yunus, Ben Zeev, Bruria, Bennett, Mark F., Berkovic, Samuel F., Isidor, Bertrand, Bouman, Arjan, Brilstra, Eva, Busk, Øyvind L., Cairns, Anita, Caumes, Roseline, Chatron, Nicolas, Dale, Russell C., de Geus, Christa, Edery, Patrick, Gill, Deepak, Granild-Jensen, Jacob Bie, Gunderson, Lauren, Gunning, Boudewijn, Heimer, Gali, Helle, Johan R., Hildebrand, Michael S., Hollingsworth, Georgie, Kharytonov, Volodymyr, Klee, Eric W., Koeleman, Bobby P.C., Koolen, David A., Korff, Christian, Küry, Sébastien, Lesca, Gaetan, Lev, Dorit, Leventer, Richard J., Mackay, Mark T., Macke, Erica L., McEntagart, Meriel, Mohammad, Shekeeb S., Monin, Pauline, Montomoli, Martino, Morava, Eva, Moutton, Sebastien, Muir, Alison M., Parrini, Elena, Procopis, Peter, Ranza, Emmanuelle, Reed, Laura, Reif, Philipp S., Rosenow, Felix, Rossi, Massimiliano, Sadleir, Lynette G., Sadoway, Tara, Schelhaas, Helenius J., Schneider, Amy L., Shah, Krati, Shalev, Ruth, Sisodiya, Sanjay M., Smol, Thomas, Stumpel, Connie T.R.M., Stuurman, Kyra, Symonds, Joseph D., Mau-Them, Frederic Tran, Verbeek, Nienke, Verhoeven, Judith S., Wallace, Geoffrey, Yosovich, Keren, Zarate, Yuri A., Zerem, Ayelet, Zuberi, Sameer M., Guerrini, Renzo, Mefford, Heather C., Patel, Chirag, Zhang, Yue-Hua, Møller, Rikke S., and Scheffer, Ingrid E.

Published
2021
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23. Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A‐related epilepsy and/or neurodevelopmental disorders

Author

Conecker, Gabrielle, primary, Xia, Maya Y., additional, Hecker, JayEtta, additional, Achkar, Christelle, additional, Cukiert, Cristine, additional, Devries, Seth, additional, Donner, Elizabeth, additional, Fitzgerald, Mark P., additional, Gardella, Elena, additional, Hammer, Michael, additional, Hegde, Anaita, additional, Hu, Chunhui, additional, Kato, Mitsuhiro, additional, Luo, Tian, additional, Schreiber, John M., additional, Wang, Yi, additional, Kooistra, Tammy, additional, Oudin, Madeleine, additional, Waldrop, Kayla, additional, Youngquist, J. Tyler, additional, Zhang, Dennis, additional, Wirrell, Elaine, additional, and Perry, M. Scott, additional

Published
2024
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24. Global modified‐Delphi consensus on comorbidities and prognosis of SCN8A‐related epilepsy and/or neurodevelopmental disorders

Author

Conecker, Gabrielle, primary, Xia, Maya Y., additional, Hecker, JayEtta, additional, Achkar, Christelle, additional, Cukiert, Cristine, additional, Devries, Seth, additional, Donner, Elizabeth, additional, Fitzgerald, Mark, additional, Gardella, Elena, additional, Hammer, Michael, additional, Hegde, Anaita, additional, Hu, Chunhui, additional, Kato, Mitsuhiro, additional, Luo, Tian, additional, Schreiber, John M., additional, Wang, Yi, additional, Kooistra, Tammy, additional, Oudin, Madeleine, additional, Waldrop, Kayla, additional, Youngquist, J. Tyler, additional, Zhang, Dennis, additional, Wirrell, Elaine, additional, and Perry, M. Scott, additional

Published
2024
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25. Seizure and movement disorder in CACNA1E developmental and epileptic encephalopathy: Two sides of the same coin or same side of two different coins?

Author

Di Micco, Valentina, primary, Affronte, Leonardo, additional, Khinchi, Marianne Søndergaard, additional, Rønde, Gitte, additional, Miranda, Maria Jose, additional, Hammer, Trine Bjørg, additional, Specchio, Nicola, additional, Beniczky, Sándor, additional, Olofsson, Kern, additional, Møller, Rikke S., additional, and Gardella, Elena, additional

Published
2024
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28. Developmental epileptic encephalopathy in DLG4-related synaptopathy

Author

Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo-Serrano, Angel, Ananth, Amitha L., Brea-Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández-Jaén, Alberto, Fernández-Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil-Nagel, Antonio, Gómez-Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah-Politi, Anya, Rheims, Sylvain, Rodríguez-Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, van Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, Rubboli, Guido, Kassabian, Benedetta, Levy, Amanda M., Gardella, Elena, Aledo-Serrano, Angel, Ananth, Amitha L., Brea-Fernández, Alejandro J., Caumes, Roseline, Chatron, Nicolas, Dainelli, Alice, De Wachter, Matthias, Denommé-Pichon, Anne-Sophie, Dye, Thomas J., Fazzi, Elisa, Felt, Roxanne, Fernández-Jaén, Alberto, Fernández-Prieto, Montse, Gantz, Emily, Gasperowicz, Piotr, Gil-Nagel, Antonio, Gómez-Andrés, David, Greiner, Hansel M., Guerrini, Renzo, Haanpää, Maria K., Helin, Minttu, Hoyer, Juliane, Hurst, Anna C. E., Kallish, Staci, Karkare, Shefali N., Khan, Amjad, Kleinendorst, Lotte, Koch, Johannes, Kothare, Sanjeev V., Koudijs, Suzanna M., Lagae, Lieven, Lakeman, Phillis, Leppig, Kathleen A., Lesca, Gaetan, Lopergolo, Diego, Lusk, Laina, Mackenzie, Alex, Mei, Davide, Møller, Rikke S., Pereira, Elaine M., Platzer, Konrad, Quelin, Chloe, Revah-Politi, Anya, Rheims, Sylvain, Rodríguez-Palmero, Agustí, Rossi, Andrea, Santorelli, Filippo, Seinfeld, Syndi, Sell, Erick, Stephenson, Donna, Szczaluba, Krzysztof, Trinka, Eugen, Umair, Muhammad, Van Esch, Hilde, van Haelst, Mieke M., Veenma, Danielle C. M., Weber, Sacha, Weckhuysen, Sarah, Zacher, Pia, Tümer, Zeynep, and Rubboli, Guido

Abstract

Objective: The postsynaptic density protein of excitatory neurons PSD-95 is encoded by discs large MAGUK scaffold protein 4 (DLG4), de novo pathogenic variants of which lead to DLG4-related synaptopathy. The major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy is present in 50% of the individuals, it has not been investigated in detail. We describe here the phenotypic spectrum of epilepsy and associated comorbidities in patients with DLG4-related synaptopathy. Methods: We included 35 individuals with a DLG4 variant and epilepsy as part of a multicenter study. The DLG4 variants were detected by the referring laboratories. The degree of ID, hypotonia, developmental delay, and motor disturbances were evaluated by the referring clinician. Data on awake and sleep electroencephalography (EEG) and/or video-polygraphy and brain magnetic resonance imaging were collected. Antiseizure medication response was retrospectively assessed by the referring clinician. Results: A large variety of seizure types was reported, although focal seizures were the most common. Encephalopathy related to status epilepticus during slow-wave sleep (ESES)/developmental epileptic encephalopathy with spike–wave activation during sleep (DEE-SWAS) was diagnosed in >25% of the individuals. All but one individual presented with neurodevelopmental delay. Regression in verbal and/or motor domains was observed in all individuals who suffered from ESES/DEE-SWAS, as well as some who did not. We could not identify a clear genotype–phenotype relationship even between individuals with the same DLG4 variants. Significance: Our study shows that a subgroup of individuals with DLG4-related synaptopathy have DEE, and approximately one fourth of them have ESES/DEE-SWAS. Our study confirms DEE as part of the DLG4-related phenotypic spectrum. Occurrence of ESES/DEE-SWAS in DLG4-related synaptopathy requi

Published
2024

29. GABRA1-related disorders:from genetic to functional pathways

Author

Musto, Elisa, Liao, Vivian W Y, Johannesen, Katrine M, Fenger, Christina D, Lederer, Damien, Kothur, Kavitha, Fisk, Katrina, Bennetts, Bruce, Vrielynck, Pascal, Delaby, Delphine, Ceulemans, Berten, Weckhuysen, Sarah, Sparber, Peter, Bouman, Arjan, Ardern-Holmes, Simone, Troedson, Christopher, Battaglia, Domenica I, Goel, Himanshu, Feyma, Timothy, Bakhtiari, Somayeh, Tjoa, Linda, Boxill, Martin, Demina, Nina, Shchagina, Olga, Dadali, Elena, Kruer, Michael, Cantalupo, Gaetano, Contaldo, Ilaria, Polster, Tilman, Isidor, Bertrand, Bova, Stefania M, Fazeli, Walid, Wouters, Leen, Miranda, Maria J, Darra, Francesca, Pede, Elisa, Le Duc, Diana, Jamra, Rami Abou, Küry, Sébastien, Proietti, Jacopo, McSweeney, Niamh, Brokamp, Elly, Andrews, Peter Ian, Gouray Garcia, Marie, Chebib, Mary, Møller, Rikke S, Ahring, Philip K, Gardella, Elena, Musto, Elisa, Liao, Vivian W Y, Johannesen, Katrine M, Fenger, Christina D, Lederer, Damien, Kothur, Kavitha, Fisk, Katrina, Bennetts, Bruce, Vrielynck, Pascal, Delaby, Delphine, Ceulemans, Berten, Weckhuysen, Sarah, Sparber, Peter, Bouman, Arjan, Ardern-Holmes, Simone, Troedson, Christopher, Battaglia, Domenica I, Goel, Himanshu, Feyma, Timothy, Bakhtiari, Somayeh, Tjoa, Linda, Boxill, Martin, Demina, Nina, Shchagina, Olga, Dadali, Elena, Kruer, Michael, Cantalupo, Gaetano, Contaldo, Ilaria, Polster, Tilman, Isidor, Bertrand, Bova, Stefania M, Fazeli, Walid, Wouters, Leen, Miranda, Maria J, Darra, Francesca, Pede, Elisa, Le Duc, Diana, Jamra, Rami Abou, Küry, Sébastien, Proietti, Jacopo, McSweeney, Niamh, Brokamp, Elly, Andrews, Peter Ian, Gouray Garcia, Marie, Chebib, Mary, Møller, Rikke S, Ahring, Philip K, and Gardella, Elena

Abstract

Objective Variants in GABRA1 have been associated with a broad epilepsy spectrum, ranging from genetic generalized epilepsies to developmental and epileptic encephalopathies. However, our understanding of what determines the phenotype severity and best treatment options remains inadequate. We therefore aimed to analyse the electro-clinical features and the functional effects of GABRA1-variants to establish genotype–phenotype correlations. Methods Genetic and electro-clinical data of 27 individuals (22 unrelated and 2 families) harbouring 20 different GABRA1 variants were collected and accompanied with functional analysis of 19 variants. Results Individuals in this cohort could be assigned into different clinical subgroups based on the functional effect of their variant and its structural position within the GABRA1 subunit. A homogenous phenotype with mild cognitive impairment and infantile-onset epilepsy (focal seizures, fever sensitivity and EEG posterior epileptiform discharges) was described for variants in the extra-cellular domain and the small transmembrane loops. These variants displayed loss-of-function (LoF) effects and the patients generally had a favourable outcome. A more severe phenotype was associated with variants in the pore-forming transmembrane helices. These variants displayed either gain-of-function (GoF) or LoF effects. GoF-variants were associated with severe early-onset neurodevelopmental disorders, including early infantile developmental and epileptic encephalopathy. Interpretation Our data expand the genetic and phenotypic spectrum of GABRA1-epilepsies and permit to delineate specific sub-phenotypes for LoF and GoF variants, though the heterogeneity of phenotypes and variants. Generally, variants in the transmembrane helices cause more severe phenotypes, in particular GoF variants. These findings establish the basis for a better understanding of the patho-mechanism and precision medicine approach in, OBJECTIVE: Variants in GABRA1 have been associated with a broad epilepsy spectrum, ranging from genetic generalized epilepsies to developmental and epileptic encephalopathies. However, our understanding of what determines the phenotype severity and best treatment options remains inadequate. We therefore aimed to analyse the electro-clinical features and the functional effects of GABRA1-variants to establish genotype-phenotype correlations.METHODS: Genetic and electro-clinical data of 27 individuals (22 unrelated and 2 families) harbouring 20 different GABRA1 variants were collected and accompanied with functional analysis of 19 variants.RESULTS: Individuals in this cohort could be assigned into different clinical subgroups based on the functional effect of their variant and its structural position within the GABRA1 subunit. A homogenous phenotype with mild cognitive impairment and infantile-onset epilepsy (focal seizures, fever sensitivity and EEG posterior epileptiform discharges) was described for variants in the extra-cellular domain and the small transmembrane loops. These variants displayed loss-of-function (LoF) effects and the patients generally had a favourable outcome. A more severe phenotype was associated with variants in the pore-forming transmembrane helices. These variants displayed either gain-of-function (GoF) or LoF effects. GoF-variants were associated with severe early-onset neurodevelopmental disorders, including early infantile developmental and epileptic encephalopathy.INTERPRETATION: Our data expand the genetic and phenotypic spectrum of GABRA1-epilepsies and permit to delineate specific sub-phenotypes for LoF and GoF variants, though the heterogeneity of phenotypes and variants. Generally, variants in the transmembrane helices cause more severe phenotypes, in particular GoF variants. These findings establish the basis for a better understanding of the patho-mechanism and precision medicine approach in GABRA1-related di

Published
2024

33. PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

Author

Bayat, Allan, Knaus, Alexej, Juul, Annika Wollenberg, Dukic, Dejan, Gardella, Elena, Charzewska, Agnieszka, Clement, Emma, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Horn, Denise, Horton, Rachel, Hurst, Jane A., Josifova, Dragana, Larsen, Line H.G., Lascelles, Karine, Obersztyn, Ewa, Pagnamenta, Alistair, Pal, Deb K., Pendziwiat, Manuela, Ryten, Mina, Taylor, Jenny, Vogt, Julie, Weber, Yvonne, Krawitz, Peter M., Helbig, Ingo, Kini, Usha, and Møller, Rikke S.

Published
2019
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35. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Author

Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E.H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., and Depienne, Christel

Published
2019
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36. PURA-Related Developmental and Epileptic Encephalopathy: Phenotypic and Genotypic Spectrum

Author

Johannesen, Katrine M., Gardella, Elena, Gjerulfsen, Cathrine E., Bayat, Allan, Rouhl, Rob P.W., Reijnders, Margot, Whalen, Sandra, Keren, Boris, Buratti, Julien, Courtin, Thomas, Wierenga, Klaas J., Isidor, Bertrand, Piton, Amélie, Faivre, Laurence, Garde, Aurore, Moutton, Sébastien, Tran-Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Coubes, Christine, Larson, Austin, Esser, Michael J., Appendino, Juan Pablo, Al-Hertani, Walla, Gamboni, Beatriz, Mampel, Alejandra, Mayorga, Lía, Orsini, Alessandro, Bonuccelli, Alice, Suppiej, Agnese, Van-Gils, Julien, Vogt, Julie, Damioli, Simona, Giordano, Lucio, Moortgat, Stephanie, Wirrell, Elaine, Hicks, Sarah, Kini, Usha, Noble, Nathan, Stewart, Helen, Asakar, Shailesh, Cohen, Julie S., Naidu, SakkuBai R., Collier, Ashley, Brilstra, Eva H., Li, Mindy H., Brew, Casey, Bigoni, Stefania, Ognibene, Davide, Ballardini, Elisa, Ruivenkamp, Claudia, Faggioli, Raffaella, Afenjar, Alexandra, Rodriguez, Diana, Bick, David, Segal, Devorah, Coman, David, Gunning, Boudewijn, Devinsky, Orrin, Demmer, Laurie A., Grebe, Theresa, Pruna, Dario, Cursio, Ida, Greenhalgh, Lynn, Graziano, Claudio, Singh, Rahul Raman, Cantalupo, Gaetano, Willems, Marjolaine, Yoganathan, Sangeetha, Góes, Fernanda, Leventer, Richard J., Colavito, Davide, Olivotto, Sara, Scelsa, Barbara, Andrade, Andrea V., Ratke, Kelly, Tokarz, Farha, Khan, Atiya S., Ormieres, Clothilde, Benko, William, Keough, Karen, Keros, Sotirios, Hussain, Shanawaz, Franques, Ashlea, Varsalone, Felicia, Grønborg, Sabine, Mignot, Cyril, Heron, Delphine, Nava, Caroline, Isapof, Arnaud, Borlot, Felippe, Whitney, Robyn, Ronan, Anne, Foulds, Nicola, Somorai, Marta, Brandsema, John, Helbig, Katherine L., Helbig, Ingo, Ortiz-González, Xilma R., Dubbs, Holly, Vitobello, Antonio, Anderson, Mel, Spadafore, Dominic, Hunt, David, Møller, Rikke S., and Rubboli, Guido

Published
2021
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37. Developmental epileptic encephalopathy in DLG4‐related synaptopathy

Author

Kassabian, Benedetta, primary, Levy, Amanda M., additional, Gardella, Elena, additional, Aledo‐Serrano, Angel, additional, Ananth, Amitha L., additional, Brea‐Fernández, Alejandro J., additional, Caumes, Roseline, additional, Chatron, Nicolas, additional, Dainelli, Alice, additional, De Wachter, Matthias, additional, Denommé‐Pichon, Anne‐Sophie, additional, Dye, Thomas J., additional, Fazzi, Elisa, additional, Felt, Roxanne, additional, Fernández‐Jaén, Alberto, additional, Fernández‐Prieto, Montserrat, additional, Gantz, Emily, additional, Gasperowicz, Piotr, additional, Gil‐Nagel, Antonio, additional, Gómez‐Andrés, David, additional, Greiner, Hansel M., additional, Guerrini, Renzo, additional, Haanpää, Maria K., additional, Helin, Minttu, additional, Hoyer, Juliane, additional, Hurst, Anna C. E., additional, Kallish, Staci, additional, Karkare, Shefali N., additional, Khan, Amjad, additional, Kleinendorst, Lotte, additional, Koch, Johannes, additional, Kothare, Sanjeev V., additional, Koudijs, Suzanna V., additional, Lagae, Lieven, additional, Lakeman, Phillis, additional, Leppig, Kathleen A., additional, Lesca, Gaetan, additional, Lopergolo, Diego, additional, Lusk, Laina, additional, Mackenzie, Alex, additional, Mei, Davide, additional, Møller, Rikke S., additional, Pereira, Elaine M., additional, Platzer, Konrad, additional, Quelin, Chloe, additional, Revah‐Politi, Anya, additional, Rheims, Sylvain, additional, Rodríguez‐Palmero, Agustí, additional, Rossi, Andrea, additional, Santorelli, Filippo, additional, Seinfeld, Syndi, additional, Sell, Erick, additional, Stephenson, Donna, additional, Szczaluba, Krzysztof, additional, Trinka, Eugen, additional, Umair, Muhammad, additional, Van Esch, Hilde, additional, van Haelst, Mieke M., additional, Veenma, Danielle C. M., additional, Weber, Sacha, additional, Weckhuysen, Sarah, additional, Zacher, Pia, additional, Tümer, Zeynep, additional, and Rubboli, Guido, additional

Published
2023
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40. GABRA1‐Related Disorders: From Genetic to Functional Pathways

Author

Musto, Elisa, primary, Liao, Vivian W. Y., additional, Johannesen, Katrine M., additional, Fenger, Christina D., additional, Lederer, Damien, additional, Kothur, Kavitha, additional, Fisk, Katrina, additional, Bennetts, Bruce, additional, Vrielynck, Pascal, additional, Delaby, Delphine, additional, Ceulemans, Berten, additional, Weckhuysen, Sarah, additional, Sparber, Peter, additional, Bouman, Arjan, additional, Ardern‐Holmes, Simone, additional, Troedson, Christopher, additional, Battaglia, Domenica I., additional, Goel, Himanshu, additional, Feyma, Timothy, additional, Bakhtiari, Somayeh, additional, Tjoa, Linda, additional, Boxill, Martin, additional, Demina, Nina, additional, Shchagina, Olga, additional, Dadali, Elena, additional, Kruer, Michael, additional, Cantalupo, Gaetano, additional, Contaldo, Ilaria, additional, Polster, Tilman, additional, Isidor, Bertrand, additional, Bova, Stefania M., additional, Fazeli, Walid, additional, Wouters, Leen, additional, Miranda, Maria J., additional, Darra, Francesca, additional, Pede, Elisa, additional, Le Duc, Diana, additional, Jamra, Rami Abou, additional, Küry, Sébastien, additional, Proietti, Jacopo, additional, McSweeney, Niamh, additional, Brokamp, Elly, additional, Andrews, Peter Ian, additional, Gouray Garcia, Marie, additional, Chebib, Mary, additional, Møller, Rikke S., additional, Ahring, Philip K., additional, and Gardella, Elena, additional

Published
2023
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41. Seizure and movement disorder in CACNA1Edevelopmental and epileptic encephalopathy: Two sides of the same coin or same side of two different coins?

Author

Di Micco, Valentina, Affronte, Leonardo, Khinchi, Marianne Søndergaard, Rønde, Gitte, Miranda, Maria Jose, Hammer, Trine Bjørg, Specchio, Nicola, Beniczky, Sándor, Olofsson, Kern, Møller, Rikke S., and Gardella, Elena

Abstract

Pathogenic variants in CACNA1Eare associated with early‐onset epileptic and developmental encephalopathy (DEE). Severe to profound global developmental delay, early‐onset refractory seizures, severe hypotonia, and macrocephaly are the main clinical features. Patients harboring the recurrent CACNA1Evariant p.(Gly352Arg) typically present with the combination of early‐onset DEE, dystonia/dyskinesia, and contractures. We describe a 2‐year‐and‐11‐month‐old girl carrying the p.(Gly352Arg) CACNA1Evariant. She has a severe DEE with very frequent drug‐resistant seizures, profound hypotonia, and episodes of dystonia and dyskinesia. Long‐term video‐EEG‐monitoring documented subsequent tonic asymmetric seizures during wakefulness and mild paroxysmal dyskinesias of the trunk out of sleep which were thought to be a movement disorder and instead turned out to be focal hyperkinetic seizures. This is the first documented description of the EEG findings in this disorder. Our report highlights a possible overlap between cortical and subcortical phenomena in CACNA1E‐DEE. We also underline how a careful electro‐clinical evaluation might be necessary for a correct discernment between the two disorders, playing a fundamental role in the clinical assessment and proper management of children with CACNA1E‐DEE. Content available: Video

Published
2024
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42. Seizure provocation in EEGrecordings: A data‐driven approach

Author

Larsen, Pirgit Meritam, Wüstenhagen, Stephan, Terney, Daniella, Gardella, Elena, Aurlien, Harald, and Beniczky, Sándor

Abstract

Recording seizures on video‐EEG has a high diagnostic value. However, bilateral convulsive seizures constitute a risk for the patients. Our aim was to investigate the diagnostic yield and associated risks of provocation methods in short‐term video‐EEGs. We extracted data on seizures and provocation methods from a large database of short‐term video‐EEGs with standardized annotations using SCORE (Standardized Computer‐based Organized reporting of EEG). 2742 paroxysmal clinical episodes were recorded in 11 919 consecutive EEGs. Most epileptic seizures (54%) were provoked. Hyperventilation provoked most of typical absence seizures (55%), intermittent photic stimulation (IPS) provoked myoclonic seizures (25%) and most of bilateral convulsive seizures (55%), while 43% of focal seizures were precipitated by sleep. All but one of the 16 bilateral convulsive seizures were provoked by IPS or sleep. Latency between start of generalized photoparoxysmal EEG response and bilateral convulsive seizures were ≤3 s in all but one patient. The large, structured database provides evidence for the diagnostic utility of various provocation methods in short‐term video‐EEGs. The risk of bilateral convulsive seizures is relatively small, but it cannot be prevented by stopping IPS after 3 s. A priori knowledge about seizure semiology helps planning patient‐tailored provocation strategy in short‐term video‐EEGs.

Published
2024
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43. Standardized computer-based organized reporting of EEG: SCORE – Second version

Author

Beniczky, Sándor, Aurlien, Harald, Brøgger, Jan C., Hirsch, Lawrence J., Schomer, Donald L., Trinka, Eugen, Pressler, Ronit M., Wennberg, Richard, Visser, Gerhard H., Eisermann, Monika, Diehl, Beate, Lesser, Ronald P., Kaplan, Peter W., Nguyen The Tich, Sylvie, Lee, Jong Woo, Martins-da-Silva, Antonio, Stefan, Hermann, Neufeld, Miri, Rubboli, Guido, Fabricius, Martin, Gardella, Elena, Terney, Daniella, Meritam, Pirgit, Eichele, Tom, Asano, Eishi, Cox, Fieke, van Emde Boas, Walter, Mameniskiene, Ruta, Marusic, Petr, Zárubová, Jana, Schmitt, Friedhelm C., Rosén, Ingmar, Fuglsang-Frederiksen, Anders, Ikeda, Akio, MacDonald, David B., Terada, Kiyohito, Ugawa, Yoshikazu, Zhou, Dong, and Herman, Susan T.

Published
2017
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45. Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

Author

Johannesen, Katrine M., Mitter, Diana, Janowski, Robert, Roth, Christian, Toulouse, Joseph, Poulat, Anne-Lise, Ville, Dorothee M., Chatron, Nicolas, Brilstra, Eva, Geleijns, Karin, Born, Alfred Peter, McLean, Scott, Nugent, Kimberly, Baynam, Gareth, Poulton, Cathryn, Dreyer, Lauren, Gration, Dylan, Schulz, Solveig, Dieckmann, Andrea, Helbig, Katherine L., Merkenschlager, Andreas, Jamra, Rami, Finck, Anja, Gardella, Elena, Hjalgrim, Helle, Mirzaa, Ghayda, Brancati, Francesco, Bierhals, Tatjana, Denecke, Jonas, Hempel, Maja, Lemke, Johannes R., Rubboli, Guido, Muschke, Petra, Guerrini, Renzo, Vetro, Annalisa, Niessing, Dierk, Lesca, Gaetan, and Møller, Rikke S.

Published
2019
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47. Automated Interpretation of Clinical Electroencephalograms Using Artificial Intelligence

Author

Tveit, Jesper, primary, Aurlien, Harald, additional, Plis, Sergey, additional, Calhoun, Vince D., additional, Tatum, William O., additional, Schomer, Donald L., additional, Arntsen, Vibeke, additional, Cox, Fieke, additional, Fahoum, Firas, additional, Gallentine, William B., additional, Gardella, Elena, additional, Hahn, Cecil D., additional, Husain, Aatif M., additional, Kessler, Sudha, additional, Kural, Mustafa Aykut, additional, Nascimento, Fábio A., additional, Tankisi, Hatice, additional, Ulvin, Line B., additional, Wennberg, Richard, additional, and Beniczky, Sándor, additional

Published
2023
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48. IRF2BPL as a novel causative gene for progressive myoclonus epilepsy

Author

Gardella, Elena, primary, Michelucci, Roberto, additional, Christensen, Hanne M., additional, Fenger, Christina D., additional, Reale, Chiara, additional, Riguzzi, Patrizia, additional, Pasini, Elena, additional, Albini‐Riccioli, Luca, additional, Papa, Valentina, additional, Foschini, Maria Pia, additional, Cenacchi, Giovanna, additional, Furia, Francesca, additional, Marjanovic, Dragan, additional, Hammer, Trine B., additional, Møller, Rikke S., additional, and Rubboli, Guido, additional

Published
2023
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50. Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

Author

Zagaglia, Sara, Selch, Christina, Nisevic, Jelena Radic, Mei, Davide, Michalak, Zuzanna, Hernandez-Hernandez, Laura, Krithika, S., Vezyroglou, Katharina, Varadkar, Sophia M., Pepler, Alexander, Biskup, Saskia, Leão, Miguel, Gärtner, Jutta, Merkenschlager, Andreas, Jaksch, Michaela, Møller, Rikke S., Gardella, Elena, Kristiansen, Britta Schlott, Hansen, Lars Kjærsgaard, Vari, Maria Stella, Helbig, Katherine L., Desai, Sonal, Smith-Hicks, Constance L., Hino-Fukuyo, Naomi, Talvik, Tiina, Laugesaar, Rael, Ilves, Pilvi, Õunap, Katrin, Körber, Ingrid, Hartlieb, Till, Kudernatsch, Manfred, Winkler, Peter, Schimmel, Mareike, Hasse, Anette, Knuf, Markus, Heinemeyer, Jan, Makowski, Christine, Ghedia, Sondhya, Subramanian, Gopinath M., Striano, Pasquale, Thomas, Rhys H., Micallef, Caroline, Thom, Maria, Werring, David J., Kluger, Gerhard Josef, Cross, J. Helen, Guerrini, Renzo, Balestrini, Simona, and Sisodiya, Sanjay M.

Published
2018
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