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The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus.

Yu KobayashiJun TohyamaNoriyuki AkasakaKei YamadaMoemi HojoEijun SekiMasaki MiuraNoriko SomaTakeshi OnoMitsuhiro KatoMitsuko NakashimaHirotomo SaitsuNaomichi Matsumoto
Published in: Human genome variation (2023)
HCN1 is one of four genes encoding hyperpolarization-activated cyclic nucleotide-gated channels. The phenotypic spectrum associated with HCN1 variants ranges from neonatal developmental and epileptic encephalopathy to idiopathic generalized epilepsy. We report a Japanese patient with repetitive focal seizures and super-refractory status epilepticus since early infancy caused by a de novo HCN1 variant, NM_021072.4, c.1195T>C, p.(Ser399Pro). This variant might have a dominant-negative effect on channel function, leading to severe epileptic encephalopathy.
Keyphrases
  • early onset
  • anti inflammatory
  • genome wide
  • photodynamic therapy
  • physical activity
  • dna methylation
  • temporal lobe epilepsy
  • transcription factor
  • bioinformatics analysis
  • weight loss