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Neurogenetics Portal
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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
KCNQ2 mutations cause a clinical spectrum ranging from self-limited neonatal epilepsy (SLNE, seizures remitting by 6 months with normal development) to KCNQ2 epileptic encephalopathy with persistent treatment-resistant seizures and moderate-to-severe intellectual disability. The defining electroencephalographic signature of severe KCNQ2 disease is neonatal burst-suppression — a pattern that should prompt urgent genetic testing and separates KCNQ2 encephalopathy from the benign form.
Millichap JJ et al. — Neurology, 2016; Kato M et al. — Brain Dev, 2013Variant Interpretation Tip of the Day
Discordant classifications between laboratories for the same variant are common. ClinVar star ratings (1–4 stars) reflect review quality: 4-star variants reviewed by an expert pane…
Clinical Pearl
A ClinVar variant with 5 submissions of "Likely Pathogenic" and 0-star review status is not equivalent to a 3-star "Likely Pathogenic" reviewed by a ClinGen expert panel. The star count matters as much as the classification.
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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
Kv7.5 M-channel subunit · Epileptic encephalopathy, intellectual disability
Ryanodine receptor 1 · Malignant hyperthermia, congenital myopathy
Nav β2 auxiliary subunit · Cardiac and neurological channelopathy
Creatine transporter 1 · X-linked intellectual disability, absent speech, epilepsy
Mitochondrial tRNA-Lys · Myoclonic epilepsy with ragged-red fibres (m.8344A>G)
hERG channel · Cardiac arrhythmia and sudden death risk
Ataxin-2 CAG repeat · Cerebellar ataxia, slow saccades, ALS risk factor
GABAₐ β1 subunit · Epileptic encephalopathy, intellectual disability
COX assembly factor COX15 · Hypertrophic cardiomyopathy, encephalopathy
Nav1.7 pain channel · Hypersensitivity or complete insensitivity to pain
Na/K-ATPase α3 subunit · Alternating hemiplegia, cerebellar ataxia, rapid-onset dystonia
Tuberin TSC2 · Cortical tubers, epilepsy, renal angiomyolipoma, autism