gnomAD · Franklin · Open Targets · PubMed
ClinicalTrials.gov · PanelApp · Phen2Gene · Ensembl
Neurogenetics Portal
From variant to verdict, in one search
Accepted formats
SCN8A — gene
rs121918506 — 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
The first de novo pathogenic SCN8A variant (p.Asn1768Asp) was discovered in 2012 through whole-genome sequencing of a family with infantile epileptic encephalopathy and SUDEP. Nav1.6 is now one of the most prevalent voltage-gated sodium channels in the adult brain, expressed at virtually every node of Ranvier.
Veeramah KR et al. — Am J Hum Genet, 2012Variant Interpretation Tip of the Day
In highly constrained dominant neurodevelopmental genes (pLI ≥ 0.9, LOEUF < 0.35), novel heterozygous LoF variants in phenotype-concordant patients carry much higher prior probabil…
Clinical Pearl
KCNQ2, SCN1A, CDKL5, ARX, MECP2, and FOXG1 all have pLI > 0.99. A truncating variant in any of these genes in a patient with the expected phenotype should be taken very seriously — the population constraint data is telling you the same thing the phenotype is.
Daily Board Question
Key Neurogenetics Genes
3 genes updated daily · rotates from a pool of 99Curated selection of genes with established roles in neurological and neurodevelopmental disorders
Kv3.1 fast-repolarising channel · Cortical myoclonus, ataxia, MERRF-like
Glucose transporter 1 · Epilepsy, movement disorder, developmental delay
Forkhead box G1 transcription factor · Severe neurodevelopmental disorder
Hamartin TSC1 · Hamartomas, epilepsy, autism, renal angiomyolipoma
Nav1.4 skeletal muscle channel · Episodic weakness and myotonia
Nav1.7 pain channel · Hypersensitivity or complete insensitivity to pain
Survival motor neuron 1 · Lower motor neuron degeneration, progressive weakness
E3 ubiquitin ligase (imprinted) · Severe intellectual disability, seizures, happy demeanour
Neurofibromin RasGAP · Café-au-lait spots, neurofibromas, learning disability
Nav1.2 sodium channel · Neonatal seizures to ASD spectrum
αII-spectrin cytoskeletal protein · Severe early-onset epileptic encephalopathy
GATOR1 complex subunit · Familial focal epilepsy, focal cortical dysplasia