Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

April 2, 2026EpilepsiaOpen Access

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Key Points

This research aims to identify and expand the clinical phenotype of neonatal developmental and epileptic encephalopathy with regards to specific sodium channels.
Reviewed genetic characteristics of sodium channel genes SCN1A, SCN2A, SCN3A, and SCN8A.
Analyzed their expression in brain tissues.
Compared phenotypic expressions across these gene variants.
Expanded the phenotype of NDEEMA to include paralogue sodium channel genes.
Identified shared clinical characteristics related to various sodium channel gene mutations.
Provided insights into potential genetic underpinnings of movement disorders and arthrogryposis.

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Study expands neurological phenotype related to sodium channel genes in neonates, suggesting shared characteristics.

This study expands the phenotype of NDEEMA from SCN1A to its paralogue sodium channel genes expressed in the brain: SCN2A, SCN3A, and SCN8A.

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Gverdtsiteli et al. (2026) studied this question.

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