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 1 - 10 of 28 in total
HPO ID HPO Term
HP:0002384 Focal impaired awareness seizure
HP:0002069 Bilateral tonic-clonic seizure
HP:0010819 Atonic seizure
HP:0001252 Hypotonia
HP:0007010 Poor fine motor coordination
HP:0100694 Tibial torsion
HP:0002197 Generalized-onset seizure
HP:0000739 Anxiety
HP:0002373 Febrile seizure (within the age range of 3 months to 6 years)
HP:0007359 Focal-onset seizure
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