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1. Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

Author

Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, and Blau, Nenad

Published
2023
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2. Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology.

Author

Salazar‐Villacorta, Ainara, Spaull, Robert, Chowdhury, Samyami, Mukhtyar, Bina, Chitre, Manali, Armstrong, Ruth, Sa, Mario, Chandratre, Saleel, Kini, Usha, Chinthapalli, Ravi, Mankad, Kshitij, Sudhakar, Sniya, Pope, Simon, Heales, Simon, and Kurian, Manju A.

Subjects
*NEURAL transmission disorders, *NEONATAL intensive care units, *COMPARATIVE genomic hybridization, *ENERGY levels (Quantum mechanics), *COVID-19, *MOVEMENT disorders
Abstract

This article discusses two case reports of children with neurotransmitter disorders associated with dual pathology. The first patient presented with global developmental delay and was initially diagnosed with a chromosomal microdeletion. However, further evaluation revealed a deficiency in the GCH1 gene, which was treated with Sinemet (levodopa/carbidopa) and resulted in significant improvement. The second patient had symptoms attributed to prematurity and periventricular leukomalacia, but whole genome sequencing revealed a diagnosis of sepiapterin reductase deficiency (SRD). Treatment with Sinemet and 5-hydroxytryptophan led to an excellent response. The article emphasizes the importance of recognizing red flags for neurotransmitter disorders and avoiding premature diagnostic closure. [Extracted from the article]

Published
2024
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3. Molecular and Phenotypic Characterization of the RORB-Related Disorder

Author

Neurologen, Brain, Metabole ziekten patientenzorg, Gokce-Samar, Zeynep, Vetro, Annalisa, De Bellescize, Julitta, Pisano, Tiziana, Monteiro, Laloe, Penaud, Noémie, Korff, Christian M., Fluss, Joel, Marini, Carla, Cesaroni, Elisabetta, Alvarez, Blanca Mercedes, Sanlaville, Damien, Chatron, Nicolas, Arzimanoglou, Alexis A., Labalme, Audrey, Cuddapah, Vishnu A., Ruggiero, Sarah M., Lecoquierre, Francois, Nicolas, Gael, Marie, Guerrot Anne, Lebas, Axel, Testard, Herve O., Helbig, Katherine L., Ruiz, Anna, Ngoh, Adeline, Kurian, Manju A., Reid, Kimberley, Spaull, Robert, Joset, Pascal, Ramantani, Georgia, Steindl, Katharina, Krenn, Martin, Gerstl, Lucia, Vieker, Silvia, Craiu, Dana, Pendziwiat, Manuela, Haldeman-Englert, Chad, Kanivets, Ilya, Romanova, Irina, Rajan, Deepa S., Rosenfeld, Jill A., Au, Margaret, Grand, Katheryn, Graham, John M., Isapof, Arnaud, Villeneuve, Nathalie, Smol, Thomas, Caumes, Roseline, Zacher, Pia, Neuser, Sonja, Tinschert, Sigrid, Platzer, Konrad, Bartolomaeus, Tobias, Mohnke, Ines, Radtke, Maximilian, Jamra, Rami Abou, Helbig, Ingo, Jansen, Floortje E., Koop, Klaas, Rudolf, Gabrielle, Küry, Sebastien, Courchet, Julien, Guerrini, Renzo, Lesca, Gaetan, Neurologen, Brain, Metabole ziekten patientenzorg, Gokce-Samar, Zeynep, Vetro, Annalisa, De Bellescize, Julitta, Pisano, Tiziana, Monteiro, Laloe, Penaud, Noémie, Korff, Christian M., Fluss, Joel, Marini, Carla, Cesaroni, Elisabetta, Alvarez, Blanca Mercedes, Sanlaville, Damien, Chatron, Nicolas, Arzimanoglou, Alexis A., Labalme, Audrey, Cuddapah, Vishnu A., Ruggiero, Sarah M., Lecoquierre, Francois, Nicolas, Gael, Marie, Guerrot Anne, Lebas, Axel, Testard, Herve O., Helbig, Katherine L., Ruiz, Anna, Ngoh, Adeline, Kurian, Manju A., Reid, Kimberley, Spaull, Robert, Joset, Pascal, Ramantani, Georgia, Steindl, Katharina, Krenn, Martin, Gerstl, Lucia, Vieker, Silvia, Craiu, Dana, Pendziwiat, Manuela, Haldeman-Englert, Chad, Kanivets, Ilya, Romanova, Irina, Rajan, Deepa S., Rosenfeld, Jill A., Au, Margaret, Grand, Katheryn, Graham, John M., Isapof, Arnaud, Villeneuve, Nathalie, Smol, Thomas, Caumes, Roseline, Zacher, Pia, Neuser, Sonja, Tinschert, Sigrid, Platzer, Konrad, Bartolomaeus, Tobias, Mohnke, Ines, Radtke, Maximilian, Jamra, Rami Abou, Helbig, Ingo, Jansen, Floortje E., Koop, Klaas, Rudolf, Gabrielle, Küry, Sebastien, Courchet, Julien, Guerrini, Renzo, and Lesca, Gaetan

Published
2024

5. Molecular and Phenotypic Characterization of the RORB-Related Disorder

Author

Gokce-Samar, Zeynep, primary, Vetro, Annalisa, additional, De Bellescize, Julitta, additional, Pisano, Tiziana, additional, Monteiro, Laloe, additional, Penaud, Noémie, additional, Korff, Christian M., additional, Fluss, Joel, additional, Marini, Carla, additional, Cesaroni, Elisabetta, additional, Alvarez, Blanca Mercedes, additional, Sanlaville, Damien, additional, Chatron, Nicolas, additional, Arzimanoglou, Alexis A., additional, Labalme, Audrey, additional, Cuddapah, Vishnu A., additional, Ruggiero, Sarah M., additional, Lecoquierre, Francois, additional, Nicolas, Gael, additional, Marie, Guerrot Anne, additional, Lebas, Axel, additional, Testard, Herve O., additional, Helbig, Katherine L., additional, Ruiz, Anna, additional, Ngoh, Adeline, additional, Kurian, Manju A., additional, Reid, Kimberley, additional, Spaull, Robert, additional, Joset, Pascal, additional, Ramantani, Georgia, additional, Steindl, Katharina, additional, Krenn, Martin, additional, Gerstl, Lucia, additional, Vieker, Silvia, additional, Craiu, Dana, additional, Pendziwiat, Manuela, additional, Haldeman-Englert, Chad, additional, Kanivets, Ilya, additional, Romanova, Irina, additional, Rajan, Deepa S., additional, Rosenfeld, Jill A., additional, Au, Margaret, additional, Grand, Katheryn, additional, Graham, John M., additional, Isapof, Arnaud, additional, Villeneuve, Nathalie, additional, Smol, Thomas, additional, Caumes, Roseline, additional, Zacher, Pia, additional, Neuser, Sonja, additional, Tinschert, Sigrid, additional, Platzer, Konrad, additional, Bartolomaeus, Tobias, additional, Mohnke, Ines, additional, Radtke, Maximilian, additional, Jamra, Rami Abou, additional, Helbig, Ingo, additional, Jansen, Floortje E., additional, Koop, Klaas, additional, Rudolf, Gabrielle, additional, Küry, Sebastien, additional, Courchet, Julien, additional, Guerrini, Renzo, additional, and Lesca, Gaetan, additional

Published
2023
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7. Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

Author

Himmelreich, Nastassja, primary, Bertoldi, Mariarita, additional, Alfadhel, Majid, additional, Alghamdi, Malak Ali, additional, Anikster, Yair, additional, Bao, Xinhua, additional, Bashiri, Fahad A., additional, Zeev, Bruria Ben, additional, Bisello, Giovanni, additional, Ceylan, Ahmet Cevdet, additional, Chien, Yin-Hsiu, additional, Choy, Yew Sing, additional, Elsea, Sarah H., additional, Flint, Lisa, additional, García-Cazorla, Àngels, additional, Gijavanekar, Charul, additional, Gümüş, Emel Yılmaz, additional, Hamad, Muddathir H., additional, Hişmi, Burcu, additional, Honzik, Tomas, additional, Kuseyri Hübschmann, Oya, additional, Hwu, Wuh-Liang, additional, Ibáñez-Micó, Salvador, additional, Jeltsch, Kathrin, additional, Juliá-Palacios, Natalia, additional, Kasapkara, Çiğdem Seher, additional, Kurian, Manju A., additional, Kusmierska, Katarzyna, additional, Liu, Ning, additional, Ngu, Lock Hock, additional, Odom, John D., additional, Ong, Winnie Peitee, additional, Opladen, Thomas, additional, Oppeboen, Mari, additional, Pearl, Phillip L., additional, Pérez, Belén, additional, Pons, Roser, additional, Rygiel, Agnieszka Magdalena, additional, Shien, Tan Ee, additional, Spaull, Robert, additional, Sykut-Cegielska, Jolanta, additional, Tabarki, Brahim, additional, Tangeraas, Trine, additional, Thöny, Beat, additional, Wassenberg, Tessa, additional, Wen, Yongxin, additional, Yakob, Yusnita, additional, Yin, Jasmine Goh Chew, additional, Zeman, Jiri, additional, and Blau, Nenad, additional

Published
2023
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8. Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

Author

Maroofian, Reza, primary, Kaiyrzhanov, Rauan, additional, Cali, Elisa, additional, Zamani, Mina, additional, Zaki, Maha S, additional, Ferla, Matteo, additional, Tortora, Domenico, additional, Sadeghian, Saeid, additional, Saadi, Saadia Maryam, additional, Abdullah, Uzma, additional, Karimiani, Ehsan Ghayoor, additional, Efthymiou, Stephanie, additional, Yeşil, Gözde, additional, Alavi, Shahryar, additional, Al Shamsi, Aisha M, additional, Tajsharghi, Homa, additional, Abdel-Hamid, Mohamed S, additional, Saadi, Nebal Waill, additional, Al Mutairi, Fuad, additional, Alabdi, Lama, additional, Beetz, Christian, additional, Ali, Zafar, additional, Toosi, Mehran Beiraghi, additional, Rudnik-Schöneborn, Sabine, additional, Babaei, Meisam, additional, Isohanni, Pirjo, additional, Muhammad, Jameel, additional, Khan, Sheraz, additional, Al Shalan, Maha, additional, Hickey, Scott E, additional, Marom, Daphna, additional, Elhanan, Emil, additional, Kurian, Manju A, additional, Marafi, Dana, additional, Saberi, Alihossein, additional, Hamid, Mohammad, additional, Spaull, Robert, additional, Meng, Linyan, additional, Lalani, Seema, additional, Maqbool, Shazia, additional, Rahman, Fatima, additional, Seeger, Jürgen, additional, Palculict, Timothy Blake, additional, Lau, Tracy, additional, Murphy, David, additional, Mencacci, Niccolo Emanuele, additional, Steindl, Katharina, additional, Begemann, Anais, additional, Rauch, Anita, additional, Akbas, Sinan, additional, Aslanger, Ayça Dilruba, additional, Salpietro, Vincenzo, additional, Yousaf, Hammad, additional, Ben-Shachar, Shay, additional, Ejeskär, Katarina, additional, Al Aqeel, Aida I, additional, High, Frances A, additional, Armstrong-Javors, Amy E, additional, Zahraei, Seyed Mohammadsaleh, additional, Seifi, Tahereh, additional, Zeighami, Jawaher, additional, Shariati, Gholamreza, additional, Sedaghat, Alireza, additional, Asl, Samaneh Noroozi, additional, Shahrooei, Mohmmad, additional, Zifarelli, Giovanni, additional, Burglen, Lydie, additional, Ravelli, Claudia, additional, Zschocke, Johannes, additional, Schatz, Ulrich A, additional, Ghavideldarestani, Maryam, additional, Kamel, Walaa A, additional, Van Esch, Hilde, additional, Hackenberg, Annette, additional, Taylor, Jenny C, additional, Al-Gazali, Lihadh, additional, Bauer, Peter, additional, Gleeson, Joseph J, additional, Alkuraya, Fowzan Sami, additional, Lupski, James R, additional, Galehdari, Hamid, additional, Azizimalamiri, Reza, additional, Chung, Wendy K, additional, Baig, Shahid Mahmood, additional, Houlden, Henry, additional, and Severino, Mariasavina, additional

Published
2023
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10. PREVALENCE OF VARIANTS AND GENOTYPES IN PATIENTS WITH L-AROMATIC AMINO ACID DECARBOXYLASE (AADC) DEFICIENCY

Author

Himmelreich, Nastassja, primary, Bertoldi, Mariarita, additional, Bisello, Giovanni, additional, Anikster, Yair, additional, Zeev, Bruria Ben, additional, Chien, Yin-Hsiu, additional, Hwu, Wuh-Liang, additional, Kurian, Manju, additional, Spaull, Robert, additional, Pearl, Phillip L., additional, Perez, Belen, additional, Pons, Roser, additional, Thony, Beat, additional, Hübschmann, Oya Kuseyri, additional, Jeltsch, Kathrin, additional, Opladen, Thomas, additional, and Blau, Nenad, additional

Published
2023
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12. MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

Author

Reid, Kimberley M., primary, Spaull, Robert, additional, Salian, Smrithi, additional, Barwick, Katy, additional, Meyer, Esther, additional, Zhen, Juan, additional, Hirata, Hiromi, additional, Sheipouri, Diba, additional, Benkerroum, Hind, additional, Gorman, Kathleen M., additional, Papandreou, Apostolos, additional, Simpson, Michael A., additional, Hirano, Yoshinobu, additional, Farabella, Irene, additional, Topf, Maya, additional, Grozeva, Detelina, additional, Carss, Keren, additional, Smith, Martin, additional, Pall, Hardev, additional, Lunt, Peter, additional, De Gressi, Susanna, additional, Kamsteeg, Erik‐Jan, additional, Haack, Tobias B., additional, Carr, Lucinda, additional, Guerreiro, Rita, additional, Bras, Jose, additional, Maher, Eamonn R., additional, Scott, Richard H., additional, Vandenberg, Robert J., additional, Raymond, F. Lucy, additional, Chong, Wui K., additional, Sudhakar, Sniya, additional, Mankad, Kshitij, additional, Reith, Maarten E., additional, Campeau, Philippe M., additional, Harvey, Robert J., additional, and Kurian, Manju A., additional

Published
2022
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14. MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

Author

Reid, Kimberly M., Spaull, Robert, Salian, Smrithi, Barwick, Katy, Meyer, Esther, Zhen, Juan, Hirata, Hiromi, Sheipouri, Diba, Benkerroum, Hind, Gorman, Kathleen M., Papandreou, Apostolos, Simpson, Michael A., Hirano, Yoshinobu, Farabella, Irene, Topf, Maya, Grozeva, Detelina, Carss, Keren, Smith, Martin, Pall, Hardev, Lunt, Peter, De Gressi, Susanna, Kamsteeg, Erik-Jan, Haack, Tobias B, Carr, Lucinda, Guerreiro, Rita, Bras, Jose, Maher, Eamonn R., Vandenberg, Robert J., Raymond, F. Lucy, Chong, Wui K, Sudhakar, Sniya, Mankad, Kshitij, Reith, Maarten E, Campeau, Philippe M., Harvey, Robert J., Kurian, Manju A., Reid, Kimberly M., Spaull, Robert, Salian, Smrithi, Barwick, Katy, Meyer, Esther, Zhen, Juan, Hirata, Hiromi, Sheipouri, Diba, Benkerroum, Hind, Gorman, Kathleen M., Papandreou, Apostolos, Simpson, Michael A., Hirano, Yoshinobu, Farabella, Irene, Topf, Maya, Grozeva, Detelina, Carss, Keren, Smith, Martin, Pall, Hardev, Lunt, Peter, De Gressi, Susanna, Kamsteeg, Erik-Jan, Haack, Tobias B, Carr, Lucinda, Guerreiro, Rita, Bras, Jose, Maher, Eamonn R., Vandenberg, Robert J., Raymond, F. Lucy, Chong, Wui K, Sudhakar, Sniya, Mankad, Kshitij, Reith, Maarten E, Campeau, Philippe M., Harvey, Robert J., and Kurian, Manju A.

Abstract

BACKGROUND: Despite advances in next generation sequencing technologies, the identification of variants of uncertain significance (VUS) can often hinder definitive diagnosis in patients with complex neurodevelopmental disorders. OBJECTIVE: The objective of this study was to identify and characterize the underlying cause of disease in a family with two children with severe developmental delay associated with generalized dystonia and episodic status dystonicus, chorea, epilepsy, and cataracts. METHODS: Candidate genes identified by autozygosity mapping and whole-exome sequencing were characterized using cellular and vertebrate model systems. RESULTS: Homozygous variants were found in three candidate genes: MED27, SLC6A7, and MPPE1. Although the patients had features of MED27-related disorder, the SLC6A7 and MPPE1 variants were functionally investigated. SLC6A7 variant in vitro overexpression caused decreased proline transport as a result of reduced cell-surface expression, and zebrafish knockdown of slc6a7 exhibited developmental delay and fragile motor neuron morphology that could not be rescued by L-proline transporter-G396S RNA. Lastly, patient fibroblasts displayed reduced cell-surface expression of glycophosphatidylinositol-anchored proteins linked to MPPE1 dysfunction. CONCLUSIONS: We report a family harboring a homozygous MED27 variant with additional loss-of-function SLC6A7 and MPPE1 gene variants, which potentially contribute to a blended phenotype caused by multilocus pathogenic variants. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Published
2022

15. RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood

Author

Zagaglia, Sara, Steel, Dora, Krithika, S., Hernandez-Hernandez, Laura, Custodio, Helena Martins, Gorman, Kathleen M., Vezyroglou, Aikaterini, Moller, Rikke S., King, Mary D., Hammer, Trine Bjorg, Spaull, Robert, Fazeli, Walid, Bartolomaeus, Tobias, Doummar, Diane, Keren, Boris, Mignot, Cyril, Bednarek, Nathalie, Cross, J. Helen, Mallick, Andrew A., Sanchis-Juan, Alba, Basu, Anna, Raymond, F. Lucy, Lynch, Bryan J., Majumdar, Anirban, Stamberger, Hannah, Weckhuysen, Sarah, Sisodiya, Sanjay M., Kurian, Manju A., Zagaglia, Sara, Steel, Dora, Krithika, S., Hernandez-Hernandez, Laura, Custodio, Helena Martins, Gorman, Kathleen M., Vezyroglou, Aikaterini, Moller, Rikke S., King, Mary D., Hammer, Trine Bjorg, Spaull, Robert, Fazeli, Walid, Bartolomaeus, Tobias, Doummar, Diane, Keren, Boris, Mignot, Cyril, Bednarek, Nathalie, Cross, J. Helen, Mallick, Andrew A., Sanchis-Juan, Alba, Basu, Anna, Raymond, F. Lucy, Lynch, Bryan J., Majumdar, Anirban, Stamberger, Hannah, Weckhuysen, Sarah, Sisodiya, Sanjay M., and Kurian, Manju A.

Abstract

Objective To explore the phenotypic spectrum of RHOBTB2-related disorders and specifically to determine whether patients fulfill criteria for alternating hemiplegia of childhood (AHC), we report the clinical features of 11 affected individuals. Methods Individuals with RHOBTB2-related disorders were identified through a movement disorder clinic at a specialist pediatric center, with additional cases identified through collaboration with other centers internationally. Clinical data were acquired through retrospective case-note review. Results Eleven affected patients were identified. All had heterozygous missense variants involving exon 9 of RHOBTB2, confirmed as de novo in 9 cases. All had a complexmotor phenotype, including at least 2 different kinds of movement disorder, e.g., ataxia and dystonia. Many patients demonstrated several features fulfilling the criteria for AHC: 10 patients had a movement disorder including paroxysmal elements, and 8 experienced hemiplegic episodes. In contrast to classic AHC, commonly caused by mutations in ATP1A3, these events were reported later only in RHOBTB2 mutation-positive patients from 20 months of age. Seven patients had epilepsy, but of these, 4 patients achieved seizure freedom. All patients had intellectual disability, usually moderate to severe. Other features include episodes of marked skin color change and gastrointestinal symptoms, each in 4 patients. Conclusion Although heterozygous RHOBTB2 mutations were originally described in early infantile epileptic encephalopathy type 64, our study confirms that they account for a more expansive clinical phenotype, including a complex polymorphic movement disorder with paroxysmal elements resembling AHC. RHOBTB2 testing should therefore be considered in patients with an AHC-like phenotype, particularly those negative for ATPA1A3 mutations.

Published
2021

16. STXBP1 Stop‐Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy.

Author

Spaull, Robert, Steel, Dora, Barwick, Katy, Prabhakar, Prab, Wakeling, Emma, and Kurian, Manju A.

Subjects
*MOVEMENT disorders, *EPILEPSY, *HEMIPLEGIA
Abstract

His older biological sister has learning difficulties, joint hypermobility and attention deficit hyperactivity disorder (ADHD) but no movement disorder or epilepsy. To date, movement disorders without epilepsy are only rarely reported in I STXBP1 i -related disease and all described cases have severe ID: 3 girls with ataxia and tremor8; one individual with spasticity and tremor9; and one with tremor with myoclonus10 (Table 1). Keywords: STXBP1; tremor; stop-loss; movement disorder EN STXBP1 tremor stop-loss movement disorder 837 840 4 08/05/22 20220801 NES 220801 I STXBP1 i encodes syntaxin-binding protein 1, a brain-expressed membrane trafficking protein that facilitates presynaptic vesicle docking in neurotransmission. [Extracted from the article]

Published
2022
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17. RHOBTB2 Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood

Author

Zagaglia, Sara, primary, Steel, Dora, additional, Krithika, S., additional, Hernandez-Hernandez, Laura, additional, Custodio, Helena Martins, additional, Gorman, Kathleen M., additional, Vezyroglou, Aikaterini, additional, Møller, Rikke S., additional, King, Mary D., additional, Hammer, Trine Bjørg, additional, Spaull, Robert, additional, Fazeli, Walid, additional, Bartolomaeus, Tobias, additional, Doummar, Diane, additional, Keren, Boris, additional, Mignot, Cyril, additional, Bednarek, Nathalie, additional, Cross, J. Helen, additional, Mallick, Andrew A., additional, Sanchis-Juan, Alba, additional, Basu, Anna, additional, Raymond, F. Lucy, additional, Lynch, Bryan J., additional, Majumdar, Anirban, additional, Stamberger, Hannah, additional, Weckhuysen, Sarah, additional, Sisodiya, Sanjay M., additional, and Kurian, Manju A., additional

Published
2021
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22. Mutations Expand the Phenotypic Spectrum of Alternating Hemiplegia of Childhood.

Author

Zagaglia, Sara, Steel, Dora, Krithika, S., Hernandez-Hernandez, Laura, Custodio, Helena Martins, Gorman, Kathleen M., Vezyroglou, Aikaterini, Møller, Rikke S., King, Mary D., Hammer, Trine Bjørg, Spaull, Robert, Fazeli, Walid, Bartolomaeus, Tobias, Doummar, Diane, Keren, Boris, Mignot, Cyril, Bednarek, Nathalie, Cross, J. Helen, Mallick, Andrew A., and Sanchis-Juan, Alba

Published
2021
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23. The expanding spectrum of movement disorders in genetic epilepsies.

Author

Papandreou, Apostolos, Danti, Federica Rachele, Spaull, Robert, Leuzzi, Vincenzo, Mctague, Amy, and Kurian, Manju A

Subjects
GENETIC disorders, EPILEPSY, DYSKINESIAS, HUMAN chromosome abnormality diagnosis, SEIZURES (Medicine), MOVEMENT disorders, SIDE effects of anticonvulsants, NEUROLOGY
Abstract

An ever-increasing number of neurogenetic conditions presenting with both epilepsy and atypical movements are now recognized. These disorders within the 'genetic epilepsy-dyskinesia' spectrum are clinically and genetically heterogeneous. Increased clinical awareness is therefore necessary for a rational diagnostic approach. Furthermore, careful interpretation of genetic results is key to establishing the correct diagnosis and initiating disease-specific management strategies in a timely fashion. In this review we describe the spectrum of movement disorders associated with genetically determined epilepsies. We also propose diagnostic strategies and putative pathogenic mechanisms causing these complex syndromes associated with both seizures and atypical motor control. WHAT THIS PAPER ADDS: Implicated genes encode proteins with very diverse functions. Pathophysiological mechanisms by which epilepsy and movement disorder phenotypes manifest are often not clear. Early diagnosis of treatable disorders is essential and next generation sequencing may be required. [ABSTRACT FROM AUTHOR]

Published
2020
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24. Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes

Author

Himmelreich, Nastassja, Bertoldi, Mariarita, Alfadhel, Majid, Alghamdi, Malak Ali, Anikster, Yair, Bao, Xinhua, Bashiri, Fahad A., Zeev, Bruria Ben, Bisello, Giovanni, Ceylan, Ahmet Cevdet, Chien, Yin-Hsiu, Choy, Yew Sing, Elsea, Sarah H., Flint, Lisa, García-Cazorla, Àngels, Gijavanekar, Charul, Gümüş, Emel Yılmaz, Hamad, Muddathir H., Hişmi, Burcu, Honzik, Tomas, Hübschmann, Oya Kuseyri, Hwu, Wuh-Liang, Ibáñez-Micó, Salvador, Jeltsch, Kathrin, Juliá-Palacios, Natalia, Kasapkara, Çiğdem Seher, Kurian, Manju A., Kusmierska, Katarzyna, Liu, Ning, Ngu, Lock Hock, Odom, John D., Ong, Winnie Peitee, Opladen, Thomas, Oppeboen, Mari, Pearl, Phillip L., Pérez, Belén, Pons, Roser, Rygiel, Agnieszka Magdalena, Shien, Tan Ee, Spaull, Robert, Sykut-Cegielska, Jolanta, Tabarki, Brahim, Tangeraas, Trine, Thöny, Beat, Wassenberg, Tessa, Wen, Yongxin, Yakob, Yusnita, Yin, Jasmine Goh Chew, Zeman, Jiri, and Blau, Nenad

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25. Molecular and Phenotypic Characterization of the RORB -Related Disorder.

Author

Gokce-Samar Z, Vetro A, De Bellescize J, Pisano T, Monteiro L, Penaud N, Korff CM, Fluss J, Marini C, Cesaroni E, Alvarez BM, Sanlaville D, Chatron N, Arzimanoglou AA, Labalme A, Cuddapah VA, Ruggiero SM, Lecoquierre F, Nicolas G, Marie GA, Lebas A, Testard HO, Helbig KL, Ruiz A, Ngoh A, Kurian MA, Reid K, Spaull R, Joset P, Ramantani G, Steindl K, Krenn M, Gerstl L, Vieker S, Craiu D, Pendziwiat M, Haldeman-Englert C, Kanivets I, Romanova I, Rajan DS, Rosenfeld JA, Au M, Grand K, Graham M Jr, Isapof A, Villeneuve N, Smol T, Caumes R, Zacher P, Neuser S, Tinschert S, Platzer K, Bartolomaeus T, Mohnke I, Radtke M, Jamra RA, Helbig I, Jansen FE, Koop K, Rudolf G, Küry S, Courchet J, Guerrini R, and Lesca G

Subjects
Humans, Male, Animals, Mice, Child, Preschool, Child, Adolescent, Young Adult, Adult, Infant, Seizures, Phenotype, Genotype, Nuclear Receptor Subfamily 1, Group F, Member 2, Epilepsy, Absence genetics, Epilepsy, Generalized genetics, Intellectual Disability
Abstract

Background and Objectives: Heterozygous variants in RAR-related orphan receptor B ( RORB ) have recently been associated with susceptibility to idiopathic generalized epilepsy. However, few reports have been published so far describing pathogenic variants of this gene in patients with epilepsy and intellectual disability (ID). In this study, we aimed to delineate the epilepsy phenotype associated with RORB pathogenic variants and to provide arguments in favor of the pathogenicity of variants., Methods: Through an international collaboration, we analyzed seizure characteristics, EEG data, and genotypes of a cohort of patients with heterozygous variants in RORB . To gain insight into disease mechanisms, we performed ex vivo cortical electroporation in mouse embryos of 5 selected variants, 2 truncating and 3 missense, and evaluated on expression and quantified changes in axonal morphology., Results: We identified 35 patients (17 male, median age 10 years, range 2.5-23 years) carrying 32 different heterozygous variants in RORB , including 28 single-nucleotide variants or small insertions/deletions (12 missense, 12 frameshift or nonsense, 2 splice-site variants, and 2 in-frame deletions), and 4 microdeletions; de novo in 18 patients and inherited in 10. Seizures were reported in 31/35 (89%) patients, with a median age at onset of 3 years (range 4 months-12 years). Absence seizures occurred in 25 patients with epilepsy (81%). Nineteen patients experienced a single seizure type: absences, myoclonic absences, or absences with eyelid myoclonia and focal seizures. Nine patients had absence seizures combined with other generalized seizure types. One patient had presented with absences associated with photosensitive occipital seizures. Three other patients had generalized tonic-clonic seizures without absences. ID of variable degree was observed in 85% of the patients. Expression studies in cultured neurons showed shorter axons for the 5 tested variants, both truncating and missense variants, supporting an impaired protein function., Discussion: In most patients, the phenotype of the RORB -related disorder associates absence seizures with mild-to-moderate ID. In silico and in vitro evaluation of the variants in our cohort, including axonal morphogenetic experiments in cultured neurons, supports their pathogenicity, showing a hypomorphic effect.

Published
2024
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