Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus

作者：Kumakura Akira^*; Ito Masatoshi; Hata Daisuke; Oh Norifumi; Kurahashi Hirokazu; Wang Ji wen; Hirose Shinichi

来源：Brain & Development, 2009, 31(2): 179-182.

DOI：10.1016/j.braindev.2008.06.001

• Novel SCN1A mutation
• GEFS plus spectrum
• Partial epilepsy with FS
• Splice mutation
• Truncating type mutation

This report describes a 4-year-old male patient experienced prolonged febrile seizures after I year of age, multiple febrile seizures and complex partial seizures with secondary generalization. The gene encoding voltage-gated sodium channel alpha 1-subunit: SCN1A analysis revealed a heterozygous de novo one-point mutation (IVS16 2T > C) at a splice-acceptor site. This Mutation was inferred 10 Cause truncation of the alpha 1-subunit molecule and, thereby, a loss of channel function. To date, truncation mutation has been found exclusively in patients with severe myoclonic epilepsy in infancy (SMEI), although only missense mutations have been found in generalized epilepsy with febrile seizures Plus (GEFS ), partial epilepsy with FS , FS , and FS. The patient's phenotype is consistent with that of partial epilepsy with FS , rather than SMEI, including borderline SMEI (SMEB). We present the first case report of partial epilepsy with FS associated with a truncation Mutation of SCN1A.

• 出版日期2009-2
• 单位山东大学