Neurological channelopathy of the central nervous system

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Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect

ORPHA:98749Category

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

AARS1ACTL6BADGRV1AP3B2ATP1A2ATP1A3ATP6V1ACACNA1ACACNA1BCACNA1HCACNA2D1CACNB4CDK19CELF2CHD2CILK1CLCN2CLTCCNKSR2CPA6CUX2CYFIP2DALRD3DEPDC5DHDDSDNM1EEF1A2EFHC1FBXO28FGF12FGF13FOXG1FZR1GABBR2GABRA1GABRA2GABRA5GABRB2GABRB3GABRDGABRG2GRIN2AGRIN2DHCN1JRKKCNA2KCNB1KCNC2KCNH5KCNQ3MAPK10MDGA2NECAP1NTRK2NUS1PACS2PARS2PCDH19PPP3CAPRRT2SCN1ASCN1BSCN2ASCN3ASCN8ASCN9ASLC13A5SLC1A2SLC32A1SLC38A3SRPX2STX1BSYNGAP1SYNJ1SZT2TRAK1UBA5UFSP2YWHAG

Orphanet records these genes on 7 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

UMLS C5681702

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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