1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-17-51-a 10.15844/pedneurbriefs-17-7-3 Seizure Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Genetics of Severe Myoclonic Epilepsy of Infancy http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 07 2003 01 03 2016 17 7 51 51 Copyright: © 2003 The Author(s) 2003 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

The role of SCN1A gene mutations in the etiology of severe myoclonic epilepsy of infancy (SMEI) was investigated in 93 patients followed at the Hopital Saint Vincent de Paul, Paris, and other centers in France and Italy.

 Severe Myoclonic Epilepsy of Infancy Asymptomatic SCN1A Mutations

The role of SCN1A gene mutations in the etiology of severe myoclonic epilepsy of infancy (SMEI) was investigated in 93 patients followed at the Hopital Saint Vincent de Paul, Paris, and other centers in France and Italy. SCN1A mutations occurred in 33 patients (35%). Parents of three patients (10%) who carried the inherited mutations were asymptomatic or had a milder form of epilepsy. Patients with the mutations had a greater frequency of unilateral motor seizures than those without and a more frequent family history of epilepsy. [1]

COMMENT. SMEI caused by SCN1A mutations is characterized by unilateral motor seizures, and 10% of cases are inherited from an asymptomatic or mildly affected parent. SMEI has a mean age of onset of 5 months, more than half the seizures are febrile, seizures are of all types, absence seizures with a myoclonic component are often triggered by photic stimulation, status epilepticus occurs in 75% and is often precipitated by fever, ataxia develops in >80%, psychomotor delay is common to all, and seizures are refractory to medication.

Nabbout R Gennaro E Dalla Bernardina B Dulac O Madia F Bertini E Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy Neurology 2003 Jun 24 60 12 1961 1967 10.1212/01.WNL.0000069463.41870.2F 12821740