Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene.
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.
Division of Neurology, Department of Pediatrics, University Children's Hospital Zurich, Zurich, Switzerland.
Annette
A
Hackenberg
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
Alessandra
A
Baumer
Institute of Biochemistry, University of Erlangen-Nuremberg, Erlangen, Germany.
Heinrich
H
Sticht
Division of Neurology, Department of Pediatrics, University Children's Hospital Zurich, Zurich, Switzerland.
Bernhard
B
Schmitt
Swiss Epilepsy Centre, Zurich, Switzerland.
Judith
J
Kroell-Seger
Division of Neurology, Department of Pediatrics, University Children's Hospital Zurich, Zurich, Switzerland.
David
D
Wille
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
Pascal
P
Joset
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
Sorina
S
Papuc
Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.
Anita
A
Rauch
Division of Neurology, Department of Pediatrics, University Children's Hospital Zurich, Zurich, Switzerland.
Barbara
B
Plecko
D001264:Athetosis / Q000235:genetics*; D001921:Brain / Q000503:physiopathology; D002819:Chorea / Q000235:genetics*; D006970:Disorders of Excessive Somnolence / Q000235:genetics*; D004827:Epilepsy / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D020125:Mutation, Missense; D062551:NAV1.2 Voltage-Gated Sodium Channel / Q000235:genetics*
D062551:NAV1.2 Voltage-Gated Sodium Channel; C568251:SCN2A protein, human