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

Hackenberg A, Baumer A, Sticht H, Schmitt B, Kroell-Seger J, Wille D, Joset P, Papuc S, Rauch A, Plecko B (2014)

Publication Type: Journal article

Publication year: 2014

Journal

Neuropediatrics Thieme Publishing / Georg Thieme Verlag

Publisher: Thieme Publishing / Georg Thieme Verlag

Book Volume: 45

Pages Range: 261-4

Journal Issue: 4

DOI: 10.1055/s-0034-1372302

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.

Authors with CRIS profile

Heinrich Sticht Professur für Bioinformatik

Involved external institutions

Universitäts-Kinderspital Zürich CH Switzerland (CH) University of Zurich / Universität Zürich (UZH) CH Switzerland (CH) Schweizerisches Epilepsie-Zentrum CH Switzerland (CH)

How to cite

APA:

Hackenberg, A., Baumer, A., Sticht, H., Schmitt, B., Kroell-Seger, J., Wille, D.,... Plecko, B. (2014). Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene. Neuropediatrics, 45(4), 261-4. https://doi.org/10.1055/s-0034-1372302

MLA:

Hackenberg, Annette, et al. "Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene." Neuropediatrics 45.4 (2014): 261-4.

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