Malignant migrating partial seizures of infancy: genes and variants
Explore variant evidence for Malignant migrating partial seizures of infancy across 2 analyzed proteins (SCN2A, KCNT1). Linked ClinVar records include 3 pathogenic or likely pathogenic variants, 0 variants of uncertain significance and 0 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Malignant migrating partial seizures of infancy
SCN2A: Sodium channel protein type 2 subunit alpha
The protein forms Nav1.2, a voltage-gated sodium channel that carries sodium current during neuronal action potentials. By shaping neuronal excitability and signal propagation, it supports brain circuits involved in development, learning, and seizure susceptibility.
3 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in SCN2A have source records linked to Malignant migrating partial seizures of infancy. Association strength is not clinical gene validity.
KCNT1: Potassium channel subfamily T member 1
Its sodium-activated potassium current helps shape repetitive neuronal firing and adaptation. Gain-of-function variants are a well-established cause of severe early-onset epilepsies, including epilepsy of infancy with migrating focal seizures and autosomal dominant sleep-related hypermotor epilepsy.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in KCNT1 have source records linked to Malignant migrating partial seizures of infancy. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Malignant migrating partial seizures of infancy
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SCN2A V213A | 213 | I | Pathogenic / likely pathogenic (★★) |
| SCN2A M1323V | 1323 | III | Pathogenic / likely pathogenic (★★) |
| SCN2A V966L | 966 | II | Pathogenic / likely pathogenic |
Same protein, different disease
- Seizures, benign familial infantile, 3 also has ClinVar records linked to SCN2A variants; they fall mostly in different places as the Malignant migrating partial seizures of infancy variants (167 pathogenic / likely pathogenic).
- Complex neurodevelopmental disorder also has ClinVar records linked to SCN2A variants; they fall mostly in different places as the Malignant migrating partial seizures of infancy variants (22 pathogenic / likely pathogenic).
- Episodic ataxia type 2 also has ClinVar records linked to SCN2A variants; they fall mostly in different places as the Malignant migrating partial seizures of infancy variants (15 pathogenic / likely pathogenic).
- Infantile spasms also has ClinVar records linked to SCN2A variants; they fall mostly in different places as the Malignant migrating partial seizures of infancy variants (14 pathogenic / likely pathogenic).
- Benign familial infantile epilepsy also has ClinVar records linked to SCN2A variants; they fall mostly in different places as the Malignant migrating partial seizures of infancy variants (6 pathogenic / likely pathogenic).
Diseases related to Malignant migrating partial seizures of infancy
- Seizures, benign familial infantile, 3, also linked to SCN2A
- Amyotrophic lateral sclerosis, also linked to SCN2A
- Episodic ataxia type 2, also linked to SCN2A
- Cardiac arrhythmia, also linked to SCN2A
- Complex neurodevelopmental disorder, also linked to SCN2A
- Epilepsy, also linked to SCN2A
- Infantile spasms, also linked to SCN2A
- Rolandic epilepsy, also linked to SCN2A
- Benign familial infantile epilepsy, also linked to SCN2A
- Familial sleep-related hypermotor epilepsy, also linked to KCNT1
- Focal epilepsy, also linked to SCN2A
- Migraine, also linked to SCN2A
Frequently asked questions
Which genes have records linked to Malignant migrating partial seizures of infancy?
This view contains 2 analyzed proteins: SCN2A, KCNT1. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 3 pathogenic or likely pathogenic variants, 0 variants of uncertain significance and 0 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 5 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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