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Jana Soukalova | OMICS International
ISSN: 2329-6895

Journal of Neurological Disorders
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Jana Soukalova

Czech Republic

Two Distinct De novo Pathogenic Sequence Variants in the SCN2A Gene in Children with Early Infantile Epileptic Encephalopathy/Ohtahara Syndrome

Early infantile epileptic encephalopathy/Ohtahara syndrome represents a group of genetically heterogeneous disorders affecting normal brain development and functioning. In this work, we present a case of two unrelated children diagnosed with early infantile epileptic encephalopathy and associated multiple congenital abnormalities. To obtain genetic... Read More»

Marketa Wayhelova, Jan Oppelt, Jan Smetana, Hana Filkova, Eva Hladilkova, Jana Soukalova, Renata Gaillyova and Petr Kuglik

Research Article: J Neurol Disord 2017, 5:369

DOI: 10.4172/2329-6895.1000369

Abstract Peer-reviewed Full Article Peer-reviewed Article PDF Mobile Full Article

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