نتایج جستجو برای: scn1b
تعداد نتایج: 101 فیلتر نتایج به سال:
______________________________________________ IV ACKNOWLEDGEMENTS ______________________________________ VI TABLE OF CONTENTS _______________________________________ VII LIST OF FIGURES _________________________________________ XIII LIST OF TABLES __________________________________________ XV LIST OF ABBREVIATIONS ____________________________________ XVI CHAPTER 1 GENERAL INTRODUCTION 1.1 Brug...
Dravet syndrome (DS) is one of the most severe genetic epilepsies of childhood. Charlotte Dravet described severe myoclonic epilepsy in infancy in 1978. Shortly after the initial report, many cases were published. Most of the cases have the SCN1A mutation. A variant of DS called borderline severe myoclonic epilepsy in infancy has similar clinical and electrographic features without myoclonus. T...
objective (s): from a genetic point of view, epilepsy is a polygenic multifactorial syndrome. the scn1a and b genes belong to a family of genes that provide instructions for making sodium channels. understanding the relevance of scn1a and scn1b gene polymorphisms to plasma concentration of carbamazepine (cbz) and its active metabolite carbamazepine 10, 11 epoxide (cbze), may shed more light on ...
Benign familial neonatal convulsions 20q13 KCNQ2 (1–3) 8q24 KCNQ3 (4,5) Childhood absence epilepsy 8q24 ? (6,7) AD Juvenile myoclonic epilepsy 6p21 ? (8–14) 5q14 ? (15,16) 5q34 GABRA1 (17) Adolescent-onset idiopathic generalized epilepsies 8p12 ? (14,18) 18q12 ? (14) 5p ? (14) Idiopathic generalized epilepsy 3q26 ? (19) 14q23 ? (19) 2q36 ? (19) Benign familial infantile convulsions 19q ? (20) 1...
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