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Neurogenetics Portal
From variant to verdict, in one search
Accepted formats
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
Tuberous sclerosis complex (TSC), caused by mutations in TSC1 or TSC2, was among the first conditions to demonstrate that mTOR pathway hyperactivation drives cortical tuber formation, subependymal giant cell astrocytomas, and epilepsy. The approval of everolimus (an mTOR inhibitor) for TSC-related SEGA and renal AML in 2010–2012 represented the first genomics-to-precision-therapy pipeline in epilepsy.
Krueger DA et al. — N Engl J Med, 2010Variant Interpretation Tip of the Day
AlphaMissense (Cheng et al. 2023, Science) uses the AlphaFold protein structure model to predict missense pathogenicity. It achieves an AUC of ~0.91 on ClinVar benchmarks. A score …
Clinical Pearl
AlphaMissense is particularly informative for variants in structural protein domains where 3D context matters. It may outperform sequence-based tools for buried residues where structural disruption drives pathogenicity.
Daily Board Question
How to Use This Portal
Learn & Practice
Worked ACMG examples, Variant Tinder, Duck Hunt, test report reading, and the Epilepsy Genetics module
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
Dual-specificity tyrosine kinase · Microcephaly, intellectual disability, epilepsy
Kv3.1 fast-repolarising channel · Cortical myoclonus, ataxia, MERRF-like
Spastin ATPase · Most common autosomal dominant spastic paraplegia
Nav β2 auxiliary subunit · Cardiac and neurological channelopathy
Nav1.1 sodium channel · Severe childhood epileptic encephalopathy
Postsynaptic scaffold SHANK3 · Autism, absent speech, epilepsy
Nav1.2 sodium channel · Neonatal seizures to ASD spectrum
Nav1.4 skeletal muscle channel · Episodic weakness and myotonia
Ribosomal protein L10 · Autism spectrum and X-linked intellectual disability
Histone acetyltransferase · Intellectual disability, speech delay, cardiac defects
Glucose transporter 1 · Epilepsy, movement disorder, developmental delay
GluN2A NMDA subunit · Landau-Kleffner, continuous spike-and-wave in sleep