Article
Disruption of Fgf13 causes synaptic excitatory-inhibitory imbalance and genetic epilepsy and febrile seizures plus.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 10 Jun 2015
Puranam Ram S, He Xiao Ping, Yao Lijun, Le Tri, Jang Wonjo, Rehder Catherine W, Lewis Darrell V, McNamara James O
Abstract excerpt
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...
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