Related Experiment Video
Updated: Apr 20, 2026
Author Spotlight: Repetitive Transcranial Magnetic Stimulation Combined with Movement Observation in Cerebral Palsy
Published on: August 9, 2024
SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet
Virginia C N Wong1, C W Fung1, Anna K Y Kwong2
1Division of Paediatric Neurology/Developmental Behavioural Paediatrics/NeuroHabilitation, Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong Special Administrative Region, China; Department of Paediatrics and Adolescent Medicine, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong Special Administrative Region, China.
Insights
A novel SCN2A gene mutation, E1211K, was identified in a Chinese boy with severe infantile spasms (IS). This finding highlights SCN2A mutations as a key cause of IS and suggests the Modified Atkins Diet may be beneficial.
Area of Science:
- Genetics
- Neurology
- Epileptology
Background:
- SCN2A gene mutations are linked to diverse epilepsy types, including infantile spasms (IS).
- Voltage-gated sodium channels are crucial for neuronal function and implicated in epilepsy pathogenesis.
Observation:
- A 6-year-old Chinese boy presented with severe developmental delay, infantile spasms from 15 months, intellectual disability, and autistic features.
- The patient exhibited drug-resistant epilepsy but achieved seizure remission with the Modified Atkins Diet.
Findings:
- A heterozygous SCN2A mutation (c.3631G>A; p.E1211K) was identified, previously reported only in a Japanese IS patient.
- This marks the first identification of an SCN2A mutation in a Chinese individual with IS.
Implications:
- The E1211K mutation in SCN2A is a significant potential etiology for infantile spasms.
- Investigating the Modified Atkins Diet for infantile spasm patients with similar SCN2A mutations warrants further research.
Background:
Mutation of SCN2A, encoding for voltage-gated sodium channel type II alpha subunit, has been demonstrated in various epilepsy phenotypes, ranging from benign to severe epileptic disorders and recently this had been reported for cases with infantile spasm (IS).
Methods:
We study a 6 years-old Chinese boy with severe developmental delay who had infantile spasm since 15 months. He later had severe intellectual disability and autistic features. He failed to respond to most anticonvulsants. Modified Atkins Diet was introduced at 4 years of age and he showed a seizure remission for 12 months with only 1 anticonvulsants. To clarify the unknown etiology, mutations were screened for genes associated with brain development or synaptic function.
Results:
A heterozygous mutation (c.3631G>A; p.E1211K) was identified in exon 21 of SCN2A gene. This mutation has been reported previously only in a Japanese patient with IS.
Conclusion:
This is the first case of SCN2A mutation identified in Chinese. Similarity of our case and one Japanese case of infantile spasm indicated that this E1211K mutation is important as possible etiology of IS. Trial of Modified Atkins Diet for other cases of infantile spasm with similar SCN2A mutations is worthwhile pursuing.
Related Concept Videos
01:20Inborn Errors of Metabolism
01:20Antiepileptic Drugs: Modulators of Neurotransmitter Release Mediated by SV2A Protein
SV2A is a transmembrane glycoprotein located predominantly in the brain, modulating the release of neurotransmitters for neuronal communication. Both levetiracetam and brivaracetam exhibit a high affinity for...
01:12Alterations in Muscle Tone ll