Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation
暂无分享,去创建一个
N. Matsumoto | H. Saitsu | M. Nakashima | K. Haginoya | M. Sasaki | E. Nakagawa | K. Sugai | Y. Uchiyama | E. Takeshita | A. Fujita | N. Togashi | Takehiko Inui | R. Takeguchi | Takashi Saito | Yukimune Okubo | R. Sato | Takuya Miyabayashi | Michiaki Nagura
[1] A. Takata,et al. A novel mutation in SLC1A3 causes episodic ataxia , 2018, Journal of Human Genetics.
[2] L. Villard,et al. Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration. , 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.
[3] S. Kure,et al. Phenytoin-responsive epileptic encephalopathy with a tandem duplication involving FGF12 , 2017, Neurology: Genetics.
[4] G. Cooper,et al. De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy , 2016, Neurology: Genetics.
[5] J. Rosenfeld,et al. FHF1 (FGF12) epileptic encephalopathy , 2016, Neurology: Genetics.
[6] Ahmad N. Abou Tayoun,et al. Understanding Genotypes and Phenotypes in Epileptic Encephalopathies , 2016, Molecular Syndromology.
[7] S. Auvin,et al. Current understanding and neurobiology of epileptic encephalopathies , 2016, Neurobiology of Disease.
[8] L. Lagae,et al. Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy , 2016, Neurology.
[9] K. Veeramah,et al. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies , 2013, Epilepsia.