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
Epilepsiajournal_title
Epilepsiaauthors
Grant AC,Vazquez Bdoi
10.1111/j.1528-1167.2005.00357.xsubject
Has Abstractpub_date
2005-01-01 00:00:00pages
39-40eissn
0013-9580issn
1528-1167pii
EPI357journal_volume
46 Suppl 10pub_type
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