Neonatal/infantile-onset epilepsy syndrome

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Neonatal/infantile-onset epilepsy syndrome

ORPHA:693802Clinical group

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
Clinical group

Genes reported in subtypes

ADGRV1ALDH7A1ARXCACNA1ECASKCDKL5CNPY3CNTNAP2CPA6CPLX1DMXL2FGF13GABRA1GABRDGABRG2GNAO1GNAQGRIN1GRIN2BGRM7GUF1HCN1KCNA1KCNQ2KCNQ3KCNT1LGI1MECP2NEUROD2NTRK2PCDH19PHACTR1PIGAPIGPPIGQPLCB1PLPBPPNKPPNPOPRRT2RHOBTB2SCN1ASCN1BSCN2ASCN8ASCN9ASIK1SLC12A5SLC25A22SLC2A1SLC32A1SPTAN1STX1BSTXBP1SYNGAP1TBC1D24TRIM8WDR45

Orphanet records these genes on 20 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.

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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