Neuropediatrics 2014; 45(04): 261-264
DOI: 10.1055/s-0034-1372302
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Infantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A Gene

Annette Hackenberg
1   Division of Neurology, Department of Pediatrics, University Children's Hospital Zurich, Zurich, Switzerland
,
Alessandra Baumer
2   Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
,
Heinrich Sticht
3   Institute of Biochemistry, University of Erlangen-Nuremberg, Erlangen, Germany
,
Bernhard Schmitt
1   Division of Neurology, Department of Pediatrics, University Children's Hospital Zurich, Zurich, Switzerland
4   CRC Clinical Research Center University, Children's Hospital Zurich, Zurich, Switzerland
,
Judith Kroell-Seger
5   Swiss Epilepsy Centre, Zurich, Switzerland
,
David Wille
1   Division of Neurology, Department of Pediatrics, University Children's Hospital Zurich, Zurich, Switzerland
,
Pascal Joset
2   Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
,
Sorina Papuc
2   Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
,
Anita Rauch
2   Institute of Medical Genetics, University of Zurich, Zurich, Switzerland
4   CRC Clinical Research Center University, Children's Hospital Zurich, Zurich, Switzerland
6   radiz—Rare Disease Initiative Zürich. Clinical Research Priority Program for Rare Diseases University of Zurich, Zurich, Switzerland
,
Barbara Plecko
1   Division of Neurology, Department of Pediatrics, University Children's Hospital Zurich, Zurich, Switzerland
4   CRC Clinical Research Center University, Children's Hospital Zurich, Zurich, Switzerland
6   radiz—Rare Disease Initiative Zürich. Clinical Research Priority Program for Rare Diseases University of Zurich, Zurich, Switzerland
› Author Affiliations
Further Information

Publication History

20 October 2013

16 January 2014

Publication Date:
07 April 2014 (online)

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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