generalized epilepsy with febrile seizures plus 10

Summary
Synonym
  • GEFS+10
  • GEFSP10
  • generalised epilepsy with febrile seizures plus 10
  • generalised epilepsy with febrile seizures plus type 10
  • generalized epilepsy with febrile seizures plus type 10
Definition
A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12.
Super Class
generalized epilepsy with febrile seizures plus
Disease Ontology
DOID:0111296
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
348980 HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
15165 Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
84390 Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
The Human Phenotype Ontology
Displaying entries 21 - 28 of 28 in total
HPO ID HPO Term
HP:0002539 Cortical dysplasia
HP:0100543 Cognitive impairment
HP:0002376 Developmental regression
HP:0002067 Bradykinesia
HP:0008770 Obsessive-compulsive trait
HP:0001251 Ataxia
HP:0004684 Talipes valgus
HP:0002133 Status epilepticus
Displaying 1 entry
Gene ID Gene Symbol Description
84059 ADGRV1 adhesion G protein-coupled receptor V1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024