A novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes.

Johnston AJ, Kang JQ, Shen W, Pickrell WO, Cushion TD, Davies JS, Baer K, Mullins JGL, Hammond CL, Chung SK, Thomas RH, White C, Smith PEM, Macdonald RL, Rees MI
Neurobiol Dis. 2014 64: 131-141

PMID: 24407264 · PMCID: PMC4222744 · DOI:10.1016/j.nbd.2013.12.013

MeSH Terms (23)

Adult Animals Cells, Cultured Cerebral Cortex Child Child, Preschool Chlorocebus aethiops Cohort Studies COS Cells Epilepsy, Generalized Family Female HEK293 Cells Humans Infant Male Neurons PC12 Cells Phenotype Point Mutation Rats Receptors, GABA-A Seizures, Febrile

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