A case of extended spectrum GEFS+.

Abstract:

:A 10-year-old boy developed febrile convulsions at age 2 years, and multiple types of nonfebrile generalized seizures over the ensuing months and years. Gestation, birth, and early development were normal, as were initial EEG and brain imaging studies. By age 5 years, he had developed behavioral difficulties, and the EEG demonstrated both interictal and ictal generalized epileptiform patterns, as well as mild background slowing. Seizures were poorly controlled with multiple medication trials. There was a strong family history of clinically benign febrile seizures in the maternal lineage. Genetic analysis revealed a novel mutation in the voltage-gated neuronal sodium channel SCN1A. This patient's relatively malignant clinical course is consistent with "extended spectrum" generalized epilepsy with febrile seizures plus (GEFS+), and along with the family history illustrates the phenotypic variability of this disease.

journal_name

Epilepsia

journal_title

Epilepsia

authors

Grant AC,Vazquez B

doi

10.1111/j.1528-1167.2005.00357.x

subject

Has Abstract

pub_date

2005-01-01 00:00:00

pages

39-40

eissn

0013-9580

issn

1528-1167

pii

EPI357

journal_volume

46 Suppl 10

pub_type

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