Febrile seizures
Definition:
References:
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[1]. Annick Salzmann, et al. Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy. Hum Mutat. 2012 Jan;33(1):124-35. [Content Brief]
[2]. Ji Yoon Han, et al. Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4. Children (Basel). 2020 Sep 18;7(9):144. [Content Brief]
[3]. Junko Nakayama, et al. Progress in searching for the febrile seizure susceptibility genes. Brain Dev. 2009 May;31(5):359-65. [Content Brief]
[4]. Massimo Mantegazza, et al. Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures. Proc Natl Acad Sci U S A. 2005 Dec 13;102(50):18177-82. [Content Brief]
[5]. Morgane Boillot, et al. Novel GABRG2 mutations cause familial febrile seizures. Neurol Genet. 2015 Nov 4;1(4):e35. [Content Brief]
[6]. Rosario M Piro, et al. Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlases. PLoS One. 2011;6(8):e23149. [Content Brief]
[7]. Yuki Nakamura, et al. Novel HCN2 mutation contributes to febrile seizures by shifting the channel's kinetics in a temperature-dependent manner. PLoS One. 2013 Dec 4;8(12):e80376. [Content Brief]
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