Journal article
SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain
Y Liao, AK Anttonen, E Liukkonen, E Gaily, S Maljevic, S Schubert, A Bellan-Koch, S Petrou, VE Ahonen, H Lerche, AE Lehesjoki
Neurology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2010
Abstract
Background: Inherited and de novo mutations in sodium channel genes underlie a variety of channelopathies. Mutations in SCN2A, encoding the brain sodium channel NaV1.2, have previously been reported to be associated with benign familial neonatal infantile seizures, febrile seizures plus, and intractable epilepsy of infancy. Methods: We evaluated the clinical characteristics in a patient with a neonatal-onset complex episodic neurologic phenotype. We screened SCN2A for mutations and carried out in vitro electrophysiologic analyses to study the consequences of the identified mutation. We studied the developmental expression of NaV1.2 in cerebellum by immunohistochemical analysis. Results: The ..
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Awarded by German Research Foundation (DFG)
Awarded by National Genome Network of the Federal Ministry for Education and Research (BMBF)
Awarded by European Union
Funding Acknowledgements
[ "Supported by the Folkhalsan Research Foundation, the University of Helsinki, the Academy of Finland (Center of Excellence Programme 2006-2011), the German Research Foundation (DFG Le1030/10-2, /8-2), the National Genome Network of the Federal Ministry for Education and Research (BMBF: NGFNplus/01GS08123), the European Union (EPICURE: LSH 037315), and the University of Ulm.", "Dr. Liao and Dr. Anttonen report no disclosures. Dr. Liukkonen has served on a scientific advisory board for Eisai Inc.; has received funding for travel from Nutricia Advanced Medical Nutrition; and has received research support from Eisai Inc. and the Arvo and Lea Ylppo Foundation. Dr. Gaily has received funding for travel from UCB and receives research support from the Arvo and Lea Ylppo Foundation. Dr. Maljevic, S. Schubert. and A. Bellen-Koch report no disclosures. Dr. Petrou serves on the editorial board of the Neurobiology of Disease; is listed as an inventor on patents re: A method for the diagnosis of SMEI, A method of drug design, and Modulation of an ion channel or receptor; has received speaker honoraria from Sepracor Inc.; and receives research support from the NHMRC and the Australian Research Council. Dr. Ahonen reports no disclosures. Dr. Lerche serves on scientific advisory boards for Eisai Inc., GlaxoSmithKline, Pfizer Inc., UCB, and Valeant Pharmaceuticals International; has received funding for travel from GlaxoSmithKline and UCB; receives speaker honoraria from Desitin Pharmaceuticals, GMBH, Eisai Inc., GlaxoSmithKline, Pfizer Inc., and UCB; and receives research support from Sanofi-Aventis, UCB, DFG, BMBF, and the European Union. Dr. Lehesjoki received a speaker honorarium from Pfizer Inc.; receives research support from the Academy of Finland, the European Union, and the Sigrid Juselius Foundation grants; and has received royalties from Licentia Ltd. for a patent re: Cystatin B Mutants." ]