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A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report
Swasti Keshri1, Anil Kumar Goel2, Seema Shah3
1All India Institute of Medical Sciences, Raipur. swastikeshri7891@gmail.com.
Insights
A novel SCN8A gene mutation caused severe Early Infantile Epileptic Encephalopathy-13 in an infant. This genetic mutation led to early-onset infantile spasms and global developmental delay.
Area of Science:
- Neurogenetics
- Epileptology
Background:
- The SCN8A gene encodes the Nav1.6 sodium channel alpha subunit, crucial for neuronal excitability.
- Mutations in SCN8A are linked to a spectrum of epilepsy syndromes, including Early Infantile Epileptic Encephalopathy-13 (EIEE-13).
Observation:
- A one-year-old female presented with infantile spasms at 17 days old, progressing to focal seizures, generalized tonic-clonic seizures (GTCS), and epileptic encephalopathy.
- The patient exhibited global developmental delay and hypotonia, with normal metabolic workup, TMS, GCMS, and MRI brain.
- EEG showed left frontal epileptic discharges evolving into generalized patterns.
Findings:
- Whole exome sequencing identified a novel heterozygous mutation in the SCN8A gene (p.Val892Ala) in exon 16.
- This mutation is associated with the severe phenotype of Early Infantile Epileptic Encephalopathy-13.
Implications:
- This case expands the known mutational spectrum of SCN8A and its associated severe epileptic encephalopathy.
- Understanding novel SCN8A mutations is critical for accurate diagnosis and potential therapeutic strategies in pediatric epilepsy.
Abstract:
SCN8A gene encodes sodium channel alpha subunit Nav1.6, and its mutation is associated with Early Infantile Epileptic Encephalopathy-13 (EIEE-13). The mean age of onset is 4-5 months. The phenotype of SCN8A mutation varies from benign epilepsy syndromes, movement disorder, intellectual disability to severe epileptic syndromes with different types of seizures. We hereby report a case of a one-year old female who had an onset of infantile spasms on the seventeenth day of life, which gradually progressed to focal, multifocal, GTCS, and epileptic encephalopathy by one year of age associated with global developmental delay and hypotonia. All metabolic workup, TMS, GCMS, and MRI brain were normal. EEG at 2.5 months was suggestive of epileptic discharge arising from the left frontal region, evolving into generalized discharges. Whole exome sequencing revealed a heterozygous mutation in the SCN8A gene at exon 16 (p.Val892Ala) suggestive of Early Infantile Epileptic Encephalopathy-13 (EIEE-13). This is a novel mutation in the SCN8A gene which has not been reported previously in the literature.
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