SCN1A MUTATION ASSOCIATED WITH ATYPICAL PANAYIOTOPOULOS SYNDROME

Abstract

Mutations identified in SCN1A , the gene encoding the neuronal sodium channel α1 subunit, have been linked with a disorder called generalized epilepsy with febrile seizures plus (GEFS+).1 GEFS+ can also be linked to mutations in SCN2A, SCN1B, and GABRG2 genes.2 Inherited mutations, commonly missense, account for 5% to 15% of GEFS+.1 Sporadic missense mutations have been reported.2 ### Case report. A 12-year-old-female patient was the third child of healthy and unrelated parents. Psychomotor development and language acquisition were normal. At age 2.8 years, she had an episode during sleep with retching, vomiting, pallor, generalized hypotonia, and loss of consciousness, lasting 6 to 7 hours. CT scan, MRI, and CSF examination results were normal. A similar episode occurred 1 year later. On that occasion, a cardiorespiratory arrest also occurred, with admission of the patient to an intensive care unit. The episode lasted approximately 8 hours. EKGs and cardiac ultrasonography were normal. At age 4.2 years, sleeping episodes with retching, vomiting, pallor, excessive sweating, loss of consciousness, and head deviation toward the left right lasting …