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SCN8A — gene
rs121918622 — rsID
SCN1A:c.1129C>T — HGVS c.
SCN1A:p.Arg377Ter — HGVS p.
2-166179712-G-C — gnomAD
epileptic encephalopathy — phenotype
Neurogenetics Factoid of the Day
GRIN2A mutations were linked to the epilepsy-aphasia spectrum (including Landau-Kleffner syndrome and CSWS) in 2010. GRIN2A encodes the GluN2A subunit of NMDA receptors, which are expressed in a highly developmentally regulated fashion — peaking in cortical layer IV around ages 2–4, correlating precisely with the age of onset of speech-related epileptiform activity.
Lesca G et al. — Nat Genet, 2013; Carvill GL et al. — Nat Genet, 2013Variant Interpretation Tip of the Day
Constraint metrics are less reliable for very short genes, poorly covered genes, or genes with known selective advantages for heterozygous carriers. Always check gnomAD's gene-leve…
Clinical Pearl
A gene flagged as low-confidence in gnomAD constraint analysis should not have pLI or LOEUF used as primary evidence — the underlying variant counts are too uncertain.
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Key Neurogenetics Genes
3 genes rotate every 8 hours · from a pool of 140Curated selection of genes with established roles in neurological and neurodevelopmental disorders
Nav1.2 sodium channel · Neonatal seizures to ASD spectrum
COX assembly factor · Complex IV deficiency, most common Leigh syndrome cause
GluA3 AMPA receptor subunit · X-linked ID, epilepsy, language delay
Cav1.2 L-type channel · Multisystem channelopathy with autism and arrhythmia
Nav1.1 sodium channel · Severe childhood epileptic encephalopathy
Neurexin 1 presynaptic organiser · ASD, schizophrenia, intellectual disability
Kv1.2 voltage-gated channel · Febrile seizures, episodic ataxia, intellectual disability
Frataxin iron-sulfur protein · GAA repeat, progressive ataxia, cardiomyopathy
GABAₐ α1 subunit · Spectrum from febrile seizures to epileptic encephalopathy
Nav β2 auxiliary subunit · Cardiac and neurological channelopathy
Nav1.7 pain channel · Hypersensitivity or complete insensitivity to pain
Cav2.2 N-type channel · Epileptic encephalopathy, movement disorder