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7. KCNQ2 encephalopathy

Author

Numis, Adam L, Angriman, Marco, Sullivan, Joseph E, Lewis, Ann J, Striano, Pasquale, Nabbout, Rima, and Cilio, Maria R

Subjects
Neurosciences, Epilepsy, Pediatric, Brain Disorders, Neurodegenerative, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Anticonvulsants, Electroencephalography, Epilepsy, Benign Neonatal, Female, Gestational Age, Humans, Infant, KCNQ2 Potassium Channel, Magnetic Resonance Imaging, Male, Motor Skills Disorders, Mutation, Phenotype, Clinical Sciences, Cognitive Sciences, Neurology & Neurosurgery
Abstract

Neonatal-onset epilepsies are rare conditions, mostly genetically determined, that can have a benign or severe phenotype.(1,2) There is recent recognition of de novo KCNQ2 mutations in patients with severe neonatal-onset epilepsy with intractable seizures and severe psychomotor impairment, termed KCNQ2 encephalopathy.(3,4) This is a rare condition and all patients reported so far were diagnosed well after the neonatal period.(3,4) We report on 3 new cases of KCNQ2 encephalopathy diagnosed in the neonatal period and studied with continuous video-EEG recording. We describe a distinct electroclinical phenotype and report on efficacy of antiepileptic drug (AED) therapies.

Published
2014

8. Comorbidity with Sleep Disorders

Author

Bruni, Oliviero, Ferri, Raffaele, Angriman, Marco, Zarowski, Marcin, Martelletti, Paolo, Series editor, Guidetti, Vincenzo, editor, Arruda, Marco A., editor, and Ozge, Aynur, editor

Published
2017
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12. Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants

Author

Malerba, Federica, Alberini, Giulio, Balagura, Ganna, Marchese, Francesca, Amadori, Elisabetta, Riva, Antonella, Vari, Maria Stella, Gennaro, Elena, Madia, Francesca, Salpietro, Vincenzo, Angriman, Marco, Giordano, Lucio, Accorsi, Patrizia, Trivisano, Marina, Specchio, Nicola, Russo, Angelo, Gobbi, Giuseppe, Raviglione, Federico, Pisano, Tiziana, Marini, Carla, Mancardi, Maria M., Nobili, Lino, Freri, Elena, Castellotti, Barbara, Capovilla, Giuseppe, Coppola, Antonietta, Verrotti, Alberto, Martelli, Paola, Miceli, Francesco, Maragliano, Luca, Benfenati, Fabio, Cilio, Maria R., Johannesen, Kathrine M., Møller, Rikke S., Ceulemans, Berten, Minetti, Carlo, Weckhuysen, Sarah, Zara, Federico, Taglialatela, Maurizio, and Striano, Pasquale

Published
2020
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15. List of Contributors

Author

Aizenstros, Abby, primary, Aizenstros, Joel, additional, Angriman, Marco, additional, Becker, Stephen P., additional, Berthier, Johanna, additional, Chan, Emily S., additional, Chen, Maida, additional, Corkum, Penny, additional, Cortese, Samuele, additional, Efron, Daryl, additional, Heussler, Helen, additional, Hiscock, Harriet, additional, Howlett, Melissa, additional, Ivanenko, Anna, additional, Lecendreux, Michel, additional, May, Tamara, additional, McBride, Nicole M., additional, Mulraney, Melissa, additional, Nixon, Gillian M., additional, Quach, Jon, additional, Rigney, Gabrielle, additional, Sciberras, Emma, additional, Silk, Tim J., additional, Stein, Mark A., additional, Wardlaw, Margaret, additional, Weiss, Margaret D., additional, Weiss, Shelly, additional, Wiggs, Luci D., additional, and Zendarski, Nardia Jane, additional

Published
2019
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30. Genotype-phenotype correlations in patients with de novo pathogenic variants.

Author

UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de neurologie pédiatrique, Malerba, Federica, Alberini, Giulio, Balagura, Ganna, Marchese, Francesca, Amadori, Elisabetta, Riva, Antonella, Vari, Maria Stella, Gennaro, Elena, Madia, Francesca, Salpietro, Vincenzo, Angriman, Marco, Giordano, Lucio, Accorsi, Patrizia, Trivisano, Marina, Specchio, Nicola, Russo, Angelo, Gobbi, Giuseppe, Raviglione, Federico, Pisano, Tiziana, Marini, Carla, Mancardi, Maria M, Nobili, Lino, Freri, Elena, Castellotti, Barbara, Capovilla, Giuseppe, Coppola, Antonietta, Verrotti, Alberto, Martelli, Paola, Miceli, Francesco, Maragliano, Luca, Benfenati, Fabio, Cilio, Maria-Roberta, Johannesen, Kathrine M, Møller, Rikke S, Ceulemans, Berten, Minetti, Carlo, Weckhuysen, Sarah, Zara, Federico, Taglialatela, Maurizio, Striano, Pasquale, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Service de neurologie pédiatrique, Malerba, Federica, Alberini, Giulio, Balagura, Ganna, Marchese, Francesca, Amadori, Elisabetta, Riva, Antonella, Vari, Maria Stella, Gennaro, Elena, Madia, Francesca, Salpietro, Vincenzo, Angriman, Marco, Giordano, Lucio, Accorsi, Patrizia, Trivisano, Marina, Specchio, Nicola, Russo, Angelo, Gobbi, Giuseppe, Raviglione, Federico, Pisano, Tiziana, Marini, Carla, Mancardi, Maria M, Nobili, Lino, Freri, Elena, Castellotti, Barbara, Capovilla, Giuseppe, Coppola, Antonietta, Verrotti, Alberto, Martelli, Paola, Miceli, Francesco, Maragliano, Luca, Benfenati, Fabio, Cilio, Maria-Roberta, Johannesen, Kathrine M, Møller, Rikke S, Ceulemans, Berten, Minetti, Carlo, Weckhuysen, Sarah, Zara, Federico, Taglialatela, Maurizio, and Striano, Pasquale

Abstract

Early identification of de novo variants in patients with epilepsy raises prognostic issues toward optimal management. We analyzed the clinical and genetic information from a cohort of patients with de novo pathogenic variants to dissect genotype-phenotype correlations. Patients with de novo pathogenic variants were identified from Italy, Denmark, and Belgium. Atomic resolution Kv7.2 structures were also generated using homology modeling to map the variants. We included 34 patients with a mean age of 4.7 years. Median seizure onset was 2 days, mainly with focal seizures with autonomic signs. Twenty-two patients (65%) were seizure free at the mean age of 1.2 years. More than half of the patients (17/32) displayed severe/profound intellectual disability; however, 4 (13%) of them had a normal cognitive outcome.A total of 28 de novo pathogenic variants were identified, most missense (25/28), and clustered in conserved regions of the protein; 6 variants recurred, and 7 were novel. We did not identify a relationship between variant position and seizure offset or cognitive outcome in patients harboring missense variants. Besides, recurrent variants were associated with overlapping epilepsy features but also variable evolution regarding the intellectual outcome. We highlight the complexity of variant interpretation to assess the impact of a class of de novo mutations. Genetic modifiers could be implicated, but the study paradigms to successfully address the impact of each single mutation need to be developed.

Published
2020

31. Association Between Exposure to Pesticides and ADHD or Autism Spectrum Disorder: A Systematic Review of the Literature.

Author

Tessari, Luca, Angriman, Marco, Díaz-Román, Amparo, Zhang, Junhua, Conca, Andreas, and Cortese, Samuele

Subjects
AUTISM spectrum disorders, ATTENTION-deficit hyperactivity disorder, PESTICIDES, ATRIAL septal defects, SYMPTOMS
Abstract

Objective: To conduct a systematic review of studies assessing the relationship between exposure to pesticides and ADHD or Autism Spectrum Disorder (ASD). Methods: Based on a pre-registered protocol in PROPSERO (CRD42018107847), we searched PubMed, Ovid databases, and ISI Web of Knowledge with no date/language/document type restrictions, up to May 2019. The Newcastle Ottawa Scale was used to assess study quality. Results: Among the 29 retained studies, 13 focused on ADHD, 14 on ASD, and two on both disorders. Ten studies reported a significant association between exposure to pesticides and ADHD/ADHD symptoms and 12 studies found a significant association with ASD/ASD traits. The strengths of the association and the possible confounders controlled for varied substantially across studies. Conclusion: Whilst there is some evidence suggesting a possible link between pesticides and ADHD/ASD, heterogeneity across studies prevents firm conclusions. We provide methodological indications for future studies. [ABSTRACT FROM AUTHOR]

Published
2022
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36. L'insonnia in età evolutiva

Author

Oliviero Bruni and Angriman, Marco

Subjects
children, pediatrics, insomnia, non-drug therapy, perinatology and child health, drug therapy, pediatrics, perinatology and child health
Published
2015

37. STXBP1 encephalopathy

Author

Stamberger, Hannah, Nikanorova, Marina, Willemsen, Marjolein H., Accorsi, Patrizia, Angriman, Marco, Baier, Hartmut, Benkel-Herrenbrueck, Ira, Benoit, Valérie, Budetta, Mauro, Caliebe, Almuth, Cantalupo, Gaetano, Capovilla, Giuseppe, Casara, Gianluca, Courage, Carolina, Deprez, Marie, Destrée, Anne, Dilena, Robertino, Erasmus, Corrie E., Fannemel, Madeleine, Fjær, Roar, Giordano, Lucio, Helbig, Katherine L, Heyne, Henrike O., Klepper, Joerg, Kluger, Gerhard J., Lederer, Damien, Lodi, Monica, Maier, Oliver, Merkenschlager, Andreas, Michelberger, Nina, Minetti, Carlo, Muhle, Hiltrud, Phalin, Judith, Ramsey, Keri, Romeo, Antonino, Schallner, Jens, Schanze, Ina, Shinawi, Marwan, Sleegers, Kristel, Sterbova, Katalin, Syrbe, Steffen, Traverso, Monica, Tzschach, Andreas, Uldall, Peter, Van Coster, Rudy, Verhelst, Helene, Viri, Maurizio, Winter, Susan, Wolff, Markus, Zenker, Martin, Zoccante, Leonardo, De Jonghe, Peter, Helbig, Ingo, Striano, Pasquale, Lemke, Johannes R., Møller, Rikke S, Weckhuysen, Sarah, Stamberger, Hannah, Nikanorova, Marina, Willemsen, Marjolein H., Accorsi, Patrizia, Angriman, Marco, Baier, Hartmut, Benkel-Herrenbrueck, Ira, Benoit, Valérie, Budetta, Mauro, Caliebe, Almuth, Cantalupo, Gaetano, Capovilla, Giuseppe, Casara, Gianluca, Courage, Carolina, Deprez, Marie, Destrée, Anne, Dilena, Robertino, Erasmus, Corrie E., Fannemel, Madeleine, Fjær, Roar, Giordano, Lucio, Helbig, Katherine L, Heyne, Henrike O., Klepper, Joerg, Kluger, Gerhard J., Lederer, Damien, Lodi, Monica, Maier, Oliver, Merkenschlager, Andreas, Michelberger, Nina, Minetti, Carlo, Muhle, Hiltrud, Phalin, Judith, Ramsey, Keri, Romeo, Antonino, Schallner, Jens, Schanze, Ina, Shinawi, Marwan, Sleegers, Kristel, Sterbova, Katalin, Syrbe, Steffen, Traverso, Monica, Tzschach, Andreas, Uldall, Peter, Van Coster, Rudy, Verhelst, Helene, Viri, Maurizio, Winter, Susan, Wolff, Markus, Zenker, Martin, Zoccante, Leonardo, De Jonghe, Peter, Helbig, Ingo, Striano, Pasquale, Lemke, Johannes R., Møller, Rikke S, and Weckhuysen, Sarah

Abstract

Objective: To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously reported patients. Methods: We recruited newly diagnosed patients with STXBP1 mutations through an international network of clinicians and geneticists. Furthermore, we performed a systematic literature search to review the phenotypes of all previously reported patients. Results: We describe the phenotypic features of 147 patients with STXBP1-E including 45 previously unreported patients with 33 novel STXBP1 mutations. All patients have intellectual disability (ID), which is mostly severe to profound (88%). Ninety-five percent of patients have epilepsy. While one-third of patients presented with Ohtahara syndrome (21%) or West syndrome (9.5%), the majority has a nonsyndromic early-onset epilepsy and encephalopathy (53%) with epileptic spasms or tonic seizures as main seizure type. We found no correlation between severity of seizures and severity of ID or between mutation type and seizure characteristics or cognitive outcome. Neurologic comorbidities including autistic features and movement disorders are frequent. We also report 2 previously unreported adult patients with prominent extrapyramidal features. Conclusion: De novo STXBP1 mutations are among the most frequent causes of epilepsy and encephalopathy. Most patients have severe to profound ID with little correlation among seizure onset, seizure severity, and the degree of ID. Accordingly, we hypothesize that seizure severity and ID present 2 independent dimensions of the STXBP1-E phenotype. STXBP1-E may be conceptualized as a complex neurodevelopmental disorder rather than a primary epileptic encephalopathy.

Published
2016

38. STXBP1encephalopathy

Author

Stamberger, Hannah, primary, Nikanorova, Marina, additional, Willemsen, Marjolein H., additional, Accorsi, Patrizia, additional, Angriman, Marco, additional, Baier, Hartmut, additional, Benkel-Herrenbrueck, Ira, additional, Benoit, Valérie, additional, Budetta, Mauro, additional, Caliebe, Almuth, additional, Cantalupo, Gaetano, additional, Capovilla, Giuseppe, additional, Casara, Gianluca, additional, Courage, Carolina, additional, Deprez, Marie, additional, Destrée, Anne, additional, Dilena, Robertino, additional, Erasmus, Corrie E., additional, Fannemel, Madeleine, additional, Fjær, Roar, additional, Giordano, Lucio, additional, Helbig, Katherine L., additional, Heyne, Henrike O., additional, Klepper, Joerg, additional, Kluger, Gerhard J., additional, Lederer, Damien, additional, Lodi, Monica, additional, Maier, Oliver, additional, Merkenschlager, Andreas, additional, Michelberger, Nina, additional, Minetti, Carlo, additional, Muhle, Hiltrud, additional, Phalin, Judith, additional, Ramsey, Keri, additional, Romeo, Antonino, additional, Schallner, Jens, additional, Schanze, Ina, additional, Shinawi, Marwan, additional, Sleegers, Kristel, additional, Sterbova, Katalin, additional, Syrbe, Steffen, additional, Traverso, Monica, additional, Tzschach, Andreas, additional, Uldall, Peter, additional, Van Coster, Rudy, additional, Verhelst, Helene, additional, Viri, Maurizio, additional, Winter, Susan, additional, Wolff, Markus, additional, Zenker, Martin, additional, Zoccante, Leonardo, additional, De Jonghe, Peter, additional, Helbig, Ingo, additional, Striano, Pasquale, additional, Lemke, Johannes R., additional, Møller, Rikke S., additional, and Weckhuysen, Sarah, additional

Published
2016
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39. Practitioner Review: Treatment of chronic insomnia in children and adolescents with neurodevelopmental disabilities.

Author

Bruni, Oliviero, Angriman, Marco, Calisti, Fabrizio, Comandini, Alessandro, Esposito, Giovanna, Cortese, Samuele, and Ferri, Raffaele

Subjects
*ANTIDEPRESSANTS, *CLONIDINE, *INSOMNIA treatment, *MELATONIN, *ZOLPIDEM, *DIPHENHYDRAMINE, *SEDATIVES, *HYDROXYZINE (Drug), *ANXIETY, *ATTENTION-deficit hyperactivity disorder, *BEHAVIOR therapy, *CHILD development deviations, *CHRONIC diseases, *MEDICAL information storage & retrieval systems, *PSYCHOLOGY information storage & retrieval systems, *INSOMNIA, *MEDLINE, *ONLINE information services, *SYSTEMATIC reviews, *POLYSOMNOGRAPHY, *TREATMENT effectiveness, *ADOLESCENCE, *ADULTS, *CHILDREN, *THERAPEUTICS
Abstract

Background: Sleep disturbances, in particular insomnia, represent a common problem in children with neurodevelopmental disabilities (NDDs). Currently, there are no approved medications for insomnia in children by the US Food and Drug Administration or European Medicines Agency and therefore they are prescribed off‐label. We critically reviewed pediatric literature on drugs as well as nonpharmacological (behavioral) interventions used for sleep disturbances in children with NDDs. Methods: PubMed, Ovid (including PsycINFO, Ovid MEDLINE®, and Embase), and Web of Knowledge databases were searched through February 12, 2017, with no language restrictions. Two authors independently and blindly performed the screening. Results: Good sleep practices and behavioral interventions, supported by moderate‐to‐low level evidence, are the first recommended treatments for pediatric insomnia but they are often challenging to implement. Antihistamine agents, such as hydroxyzine or diphenhydramine, are the most widely prescribed sedatives in the pediatric practice but evidence supporting their use is still limited. An increasing body of evidence supports melatonin as the safest choice for children with NDDs. Benzodiazepines are not recommended in children and should only be used for transient insomnia, especially if daytime anxiety is present. Only few studies have been carried out in children's and adolescents’ zolpidem, zaleplon, and eszopiclone, with contrasting results. Limited evidence supports the use of alpha‐agonists such as clonidine to improve sleep onset latency, especially in attention deficit/hyperactivity disorder subjects. Tricyclic antidepressants, used in adults with insomnia, are not recommended in children because of their safety profile. Trazodone and mirtazapine hold promise but require further studies. Conclusions: Here, we provided a tentative guide for the use of drugs for insomnia in children with NDDs. Well‐controlled studies employing both objective polysomnography and subjective sleep measures are needed to determine the efficacy, effectiveness, and safety of the currently prescribed pediatric sleep medicines in children with NDDs. [ABSTRACT FROM AUTHOR]

Published
2018
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42. KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.

Author

Numis, Adam L, Numis, Adam L, Angriman, Marco, Sullivan, Joseph E, Lewis, Ann J, Striano, Pasquale, Nabbout, Rima, Cilio, Maria R, Numis, Adam L, Numis, Adam L, Angriman, Marco, Sullivan, Joseph E, Lewis, Ann J, Striano, Pasquale, Nabbout, Rima, and Cilio, Maria R

Abstract

Neonatal-onset epilepsies are rare conditions, mostly genetically determined, that can have a benign or severe phenotype.(1,2) There is recent recognition of de novo KCNQ2 mutations in patients with severe neonatal-onset epilepsy with intractable seizures and severe psychomotor impairment, termed KCNQ2 encephalopathy.(3,4) This is a rare condition and all patients reported so far were diagnosed well after the neonatal period.(3,4) We report on 3 new cases of KCNQ2 encephalopathy diagnosed in the neonatal period and studied with continuous video-EEG recording. We describe a distinct electroclinical phenotype and report on efficacy of antiepileptic drug (AED) therapies.

Published
2014

46. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

Author

Stamberger, Hannah, Nikanorova, Marina, Willemsen, Marjolein H, Accorsi, Patrizia, Angriman, Marco, Baier, Hartmut, Benkel-Herrenbrueck, Ira, Benoit, Valérie, Budetta, Mauro, Caliebe, Almuth, Cantalupo, Gaetano, Capovilla, Giuseppe, Casara, Gianluca, Courage, Carolina, Deprez, Marie, Destrée, Anne, Dilena, Robertino, Erasmus, Corrie E, Fannemel, Madeleine, and Fjær, Roar

Published
2016
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