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Case Reports
. 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

Annette Hackenberg  1 , Alessandra Baumer  2 , Heinrich Sticht  3 , Bernhard Schmitt  1 , Judith Kroell-Seger  4 , David Wille  1 , Pascal Joset  2 , Sorina Papuc  2 , Anita Rauch  2 , Barbara Plecko  1
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Free article
Case Reports

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

Annette Hackenberg et al. Neuropediatrics. 2014 Aug.
Free article

Abstract

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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