Ontology highlight
ABSTRACT:
SUBMITTER: Puranam RS
PROVIDER: S-EPMC4461691 | biostudies-literature | 2015 Jun
REPOSITORIES: biostudies-literature
Puranam Ram S RS He Xiao Ping XP Yao Lijun L Le Tri T Jang Wonjo W Rehder Catherine W CW Lewis Darrell V DV McNamara James O JO
The Journal of neuroscience : the official journal of the Society for Neuroscience 20150601 23
We identified a family in which a translocation between chromosomes X and 14 was associated with cognitive impairment and a complex genetic disorder termed "Genetic Epilepsy and Febrile Seizures Plus" (GEFS(+)). We demonstrate that the breakpoint on the X chromosome disrupted a gene that encodes an auxiliary protein of voltage-gated Na(+) channels, fibroblast growth factor 13 (Fgf13). Female mice in which one Fgf13 allele was deleted exhibited hyperthermia-induced seizures and epilepsy. Anatomic ...[more]