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
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, 2013Interpretation tip of the day
SpliceAI (Jaganathan et al. 2019) uses deep learning to predict splice-altering effects for any variant — including deep intronic variants up to 50 nt from the nearest splice site.…
Clinical pearl: SpliceAI can identify pathogenic deep intronic variants (pseudo-exon activating mutations) that would be missed by conventional variant interpretation focused on coding sequence — particularly relevant in conditions like ATM, NF1, and RPGR.
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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
Histone acetyltransferase · Patellar aplasia, genital anomalies, intellectual disability
Nav β2 auxiliary subunit · Cardiac and neurological channelopathy
Nav1.7 pain channel · Hypersensitivity or complete insensitivity to pain
Ataxin-3 deubiquitinase · Most common SCA worldwide, dystonia, neuropathy
E3 ubiquitin ligase (imprinted) · Severe intellectual disability, seizures, happy demeanour
Kv7.5 M-channel subunit · Epileptic encephalopathy, intellectual disability
Cav3.2 T-type channel · Absence epilepsy, febrile seizures, DEE
Methyl-CpG binding protein · X-linked neurodevelopmental regression
Chromodomain helicase DNA-binding 2 · Photosensitive epilepsy, intellectual disability
Glucose transporter 1 · Epilepsy, movement disorder, developmental delay
Postsynaptic scaffold SHANK2 · Autism, intellectual disability
GABAₐ β1 subunit · Epileptic encephalopathy, intellectual disability
Integrated data sources
Research and educational use only