Benign familial infantile seizure

Definition:

Benign familial infantile seizure (BFIS) is an autosomal dominant disease characterized by focal seizures, occurring mostly in clusters, and usually first seen between 4 and 8 months of life. Psychomotor development is normal, and seizures usually resolve within the first year of life. PRRT2 has been identified as the major gene found to be mutated in 80 to 90% of cases. Recently, mutations in the genes coding for the voltage-gated sodium channel subunits have been reported.

References:

[1]. Elena Gardella, et al. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation. Ann Neurol. 2016 Mar;79(3):428-36. [Content Brief]

[2]. Pasquale Striano, et al. A novel SCN2A mutation in family with benign familial infantile seizures. Epilepsia. 2006 Jan;47(1):218-20. [Content Brief]

[3]. Samuel F Berkovic, et al. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy. Ann Neurol. 2004 Apr;55(4):550-7. [Content Brief]

[4]. Sarah E Heron, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet. 2012 Jan 13;90(1):152-60. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.