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Neuropediatrics. 2014 Aug;45(4):261-4. doi: 10.1055/s-0034-1372302. Epub 2014 Apr 7.

Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.

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Division of Neurology, Department of Pediatrics, University Children's Hospital Zurich, Zurich, Switzerland.
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
Institute of Biochemistry, University of Erlangen-Nuremberg, Erlangen, Germany.
Swiss Epilepsy Centre, Zurich, Switzerland.


Mutations of the SCN2A gene have originally been described in association with benign familial neonatal-infantile seizures (BFNIS). Recently, single patients with more severe phenotypes and persisting epileptic encephalopathies have been recognized. We report the case of a girl with severe infantile onset epileptic encephalopathy and a de novo missense mutation in the SCN2A gene (c.4025T > C/ = ; p.L1342P/ = ), who presented with a transient choreatic movement disorder, hypersomnia, and progressive brain atrophy. Whole exome sequencing did not reveal any other disease causing mutation. Our patient contributes to the expanding phenotypic spectrum of SCN2A-related disorders and underlines the importance of genetic workup in epileptic encephalopathies.

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