Dravet syndrome - considerable delay in making the diagnosis

Objectives – To assess delay in diagnosis and clinical characteristics of Dravet syndrome based on the Dravet register at The National Centre for Epilepsy in Norway. Material and methods – Medical records of patients diagnosed with Dravet syndrome since 2007 were analysed. Results – Twenty‐two pa...

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Veröffentlicht in:	Acta neurologica Scandinavica 2012-05, Vol.125 (5), p.359-362
Hauptverfasser:	Bremer, A., Lossius, M. I., Nakken, K. O.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent adults Age Age of Onset Antiepileptic agents Biological and medical sciences Child Child, Preschool children Cognitive ability delayed diagnosis Delayed Diagnosis - prevention & control Delayed Diagnosis - statistics & numerical data Delayed Diagnosis - trends Diagnosis, Differential Dravet syndrome Epilepsies, Myoclonic - diagnosis Epilepsies, Myoclonic - genetics Epilepsies, Myoclonic - physiopathology Epilepsy Female Fever Gene deletion Genetic Predisposition to Disease - genetics Genetic screening genetics Humans Male Malformations of the nervous system medical records Medical sciences Mutation NAV1.1 Voltage-Gated Sodium Channel - genetics Neurology Retrospective Studies Seizures Sodium channels (voltage-gated) treatment Vagus nerve
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