SCN1B and SCN2B gene variants analysis in dravet syndrome patients
نویسندگان
چکیده
منابع مشابه
SCN1B gene variants in Brugada Syndrome: a study of 145 SCN5A-negative patients
Brugada syndrome is characterised by a typical ECG with ST segment elevation in the right precordial leads. Individuals with this condition are susceptible to ventricular arrhythmias and sudden cardiac death. The principal gene responsible for this syndrome is SCN5A, which encodes the α-subunit of the Nav1.5 voltage-gated sodium channel. Mutations involving other genes have been increasingly re...
متن کاملA functional null mutation of SCN1B in a patient with Dravet syndrome.
Dravet syndrome (also called severe myoclonic epilepsy of infancy) is one of the most severe forms of childhood epilepsy. Most patients have heterozygous mutations in SCN1A, encoding voltage-gated sodium channel Na(v)1.1 alpha subunits. Sodium channels are modulated by beta1 subunits, encoded by SCN1B, a gene also linked to epilepsy. Here we report the first patient with Dravet syndrome associa...
متن کاملReduced dendritic arborization and hyperexcitability of pyramidal neurons in a Scn1b-based model of Dravet syndrome.
Epileptic encephalopathies, including Dravet syndrome, are severe treatment-resistant epilepsies with developmental regression. We examined a mouse model based on a human β1 sodium channel subunit (Scn1b) mutation. Homozygous mutant mice shared phenotypic features and pharmaco-sensitivity with Dravet syndrome. Patch-clamp analysis showed that mutant subicular and layer 2/3 pyramidal neurons had...
متن کاملKCNE1 and KCNE2 variants in Patients with Long QT Syndrome
Introduction: Long QT syndrome (LQTS) is a type of ventricular arrhythmia characterized by prolonged QT intervals on electrocardiogram or delay in ventricular repolarization and it can lead to syncope, seizure and sudden cardiac death. Here, KCNE1 and KCNE2 variants are studied among Iranian affected families with this syndrome. Materials and Methods: Fifty patients referring to Rajaei Cardiov...
متن کاملSCN1A mutational analysis in Korean patients with Dravet syndrome
OBJECTIVE The aim of this study was to characterize the SCN1A mutation spectrum in Korean patients with Dravet syndrome. METHODS Twenty-nine patients diagnosed with Dravet syndrome at the Seoul National University Children's Hospital were included in the study. Direct sequencing and multiplex ligation-dependent probe amplification (MLPA) were used to identify SCN1A mutations. Mutations were c...
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ژورنال
عنوان ژورنال: Medicine
سال: 2019
ISSN: 0025-7974,1536-5964
DOI: 10.1097/md.0000000000014974