SCN3A ‐Related Neurodevelopmental Disorder: A Spectrum of Epilepsy and Brain Malformation
نویسندگان
چکیده
منابع مشابه
Epilepsy as a Neurodevelopmental Disorder
Epilepsy is characterized by spontaneous recurrent seizures and comprises a diverse group of syndromes with different etiologies. Epileptogenesis refers to the process whereby the brain becomes epileptic and can be related to several factors, such as acquired structural brain lesions, inborn brain malformations, alterations in neuronal signaling, and defects in maturation and plasticity of neur...
متن کاملSTXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.
OBJECTIVE To give a comprehensive overview of the phenotypic and genetic spectrum of STXBP1 encephalopathy (STXBP1-E) by systematically reviewing newly diagnosed and previously reported patients. METHODS We recruited newly diagnosed patients with STXBP1 mutations through an international network of clinicians and geneticists. Furthermore, we performed a systematic literature search to review ...
متن کاملEpilepsy: A Spectrum Disorder.
Epilepsy, a disorder of unprovoked seizures is a multifaceted disease affecting individuals of all ages with a particular predilection for the very young and old. In addition to seizures, many patients often report cognitive and psychiatric problems associated with both the seizures themselves and its therapy. Epilepsy has numerous etiologies both idiopathic and acquired with a wide range of th...
متن کاملNeurodevelopmental profile of Fetal Alcohol Spectrum Disorder: A systematic review
BACKGROUND In an effort to improve the screening and diagnosis of individuals with Fetal Alcohol Spectrum Disorder (FASD), research has focused on the identification of a unique neurodevelopmental profile characteristic of this population. The objective of this review was to identify any existing neurodevelopmental profiles of FASD and review their classification function in order to identify g...
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ژورنال
عنوان ژورنال: Annals of Neurology
سال: 2020
ISSN: 0364-5134,1531-8249
DOI: 10.1002/ana.25809