Generalized epilepsy with febrile seizures plus, type 1; GEFSP1

Disease ID:388
Name:Generalized epilepsy with febrile seizures plus, type 1; GEFSP1
Associated with:1 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Synonyms
Generalized epilepsy with febrile seizures-plus
Database Links
Disease Ontology: DOID:0060170
OMIM: 604233
Orphanet: ORPHA36387

Targets

HCN2
Mutations:  HCN2 is associated with 2 mutation. Click here for details

Ligands

No ligand related data available for Generalized epilepsy with febrile seizures plus, type 1; GEFSP1

References

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1. DiFrancesco JC, Barbuti A, Milanesi R, Coco S, Bucchi A, Bottelli G, Ferrarese C, Franceschetti S, Terragni B, Baruscotti M et al.. (2011) Recessive loss-of-function mutation in the pacemaker HCN2 channel causing increased neuronal excitability in a patient with idiopathic generalized epilepsy. J. Neurosci., 31 (48): 17327-37. [PMID:22131395]

2. Tang B, Sander T, Craven KB, Hempelmann A, Escayg A. (2008) Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy. Neurobiol. Dis., 29 (1): 59-70. [PMID:17931874]