A Splice-Site Mutation in GABRG2 Associated With Childhood Absence Epilepsy and Febrile Convulsions

Open Access

1 July 2002

journal article
research article
Published by American Medical Association (AMA) in Archives of Neurology

Vol. 59 (7) , 1137-1141
https://doi.org/10.1001/archneur.59.7.1137

Abstract

CHILDHOOD ABSENCE epilepsy (CAE) is one of the most common subtypes of idiopathic generalized epilepsy (IGE). It is characterized by daily clusters of absence seizures at an age of onset between 2 and 12 years.¹

Keywords

EPILEPSY
MUTATION
FEBRILE SEIZURES
ABSENCE EPILEPSY
INTRONS
DONOR SITE
SPLICE-SITE MUTATION
GENETIC PREDISPOSITION TO DISEASE
GENES
EXONS
GAMMA-AMINOBUTYRIC ACID
IDIOPATHIC GENERALIZED EPILEPSY
ALLELES
POLYMORPHISM
GENOTYPE

This publication has 1 reference indexed in Scilit:

Concordance of Clinical Forms of Epilepsy in Families with Several Affected Members
Epilepsia, 1993