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Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients

PURPOSE: Mutations of the α-1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). To date, over 300 mutations related to SMEI have been described. In the present study, we report new SCN1A mutations and the clinical features of SMEI cases. MATERIALS AND METHODS: We...

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Autores principales: Özmen, Meral, Dilber, Cengiz, Tatlı, Burak, Aydınlı, Nur, Çalışkan, Mine, Ekici, Barış
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200039/
https://www.ncbi.nlm.nih.gov/pubmed/22028529
http://dx.doi.org/10.4103/0972-2327.85879
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author Özmen, Meral
Dilber, Cengiz
Tatlı, Burak
Aydınlı, Nur
Çalışkan, Mine
Ekici, Barış
author_facet Özmen, Meral
Dilber, Cengiz
Tatlı, Burak
Aydınlı, Nur
Çalışkan, Mine
Ekici, Barış
author_sort Özmen, Meral
collection PubMed
description PURPOSE: Mutations of the α-1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). To date, over 300 mutations related to SMEI have been described. In the present study, we report new SCN1A mutations and the clinical features of SMEI cases. MATERIALS AND METHODS: We studied the clinical and genetic features of nine patients diagnosed with SMEI at the Pediatric Neurology Department of Istanbul Medical Faculty. RESULTS: Five patients had nonsense mutations, two had missense mutations, one had a splice site mutation and one had a deletion mutation of the SCN1A gene. Mutations at c.3705+5G splice site, p.trip153X nonsense mutation and deletion at c.2416_2946 have not been previously described. The seizures started following whole cell pertussis vaccination in all patients. The seizures ceased in one patient and continued in the other eight patients. Developmental regression was severe in three patients, with frequent status epilepticus. The type of mutation was not predictive for the severity of the disease. Two of the three patients with severe regression had nonsense and missense mutations. CONCLUSIONS: Dravet syndrome can be result of several different types of mutation in SCN1A gene. Onset of the seizures after pertussis vaccination is an important clue for the diagnosis and neuro- developmental delay should be expected in all patients.
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spelling pubmed-32000392011-10-25 Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients Özmen, Meral Dilber, Cengiz Tatlı, Burak Aydınlı, Nur Çalışkan, Mine Ekici, Barış Ann Indian Acad Neurol Original Article PURPOSE: Mutations of the α-1 subunit sodium channel gene (SCN1A) cause severe myoclonic epilepsy of infancy (SMEI). To date, over 300 mutations related to SMEI have been described. In the present study, we report new SCN1A mutations and the clinical features of SMEI cases. MATERIALS AND METHODS: We studied the clinical and genetic features of nine patients diagnosed with SMEI at the Pediatric Neurology Department of Istanbul Medical Faculty. RESULTS: Five patients had nonsense mutations, two had missense mutations, one had a splice site mutation and one had a deletion mutation of the SCN1A gene. Mutations at c.3705+5G splice site, p.trip153X nonsense mutation and deletion at c.2416_2946 have not been previously described. The seizures started following whole cell pertussis vaccination in all patients. The seizures ceased in one patient and continued in the other eight patients. Developmental regression was severe in three patients, with frequent status epilepticus. The type of mutation was not predictive for the severity of the disease. Two of the three patients with severe regression had nonsense and missense mutations. CONCLUSIONS: Dravet syndrome can be result of several different types of mutation in SCN1A gene. Onset of the seizures after pertussis vaccination is an important clue for the diagnosis and neuro- developmental delay should be expected in all patients. Medknow Publications 2011 /pmc/articles/PMC3200039/ /pubmed/22028529 http://dx.doi.org/10.4103/0972-2327.85879 Text en Copyright: © Annals of Indian Academy of Neurology http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Article
Özmen, Meral
Dilber, Cengiz
Tatlı, Burak
Aydınlı, Nur
Çalışkan, Mine
Ekici, Barış
Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients
title Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients
title_full Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients
title_fullStr Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients
title_full_unstemmed Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients
title_short Severe myoclonic epilepsy of infancy (Dravet syndrome): Clinical and genetic features of nine Turkish patients
title_sort severe myoclonic epilepsy of infancy (dravet syndrome): clinical and genetic features of nine turkish patients
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3200039/
https://www.ncbi.nlm.nih.gov/pubmed/22028529
http://dx.doi.org/10.4103/0972-2327.85879
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