نتایج جستجو برای: scn1a mutations
تعداد نتایج: 173129 فیلتر نتایج به سال:
It is well-known that an effective orbifold M (one for which the local stabilizer groups act effectively) can be presented as a quotient of a smooth manifold P by a locally free action of a compact lie group K. We use the language of groupoids to provide a partial answer to the question of whether a noneffective orbifold can be so presented. We also note some connections to stacks and gerbes.
PURPOSE To describe the spectrum of clinical disease in a mutliplex family with an autosomal dominant form of generalized epilepsy with febrile seizures plus (GEFS+) and determine its genetic etiology. METHODS Medical and family history was obtained on 11 clinically affected individuals and their relatives across three generations through medical chart review and home visits. A candidate gene...
OBJECTIVE Neuronal channelopathies cause brain disorders, including epilepsy, migraine, and ataxia. Despite the development of mouse models, pathophysiological mechanisms for these disorders remain uncertain. One particularly devastating channelopathy is Dravet syndrome (DS), a severe childhood epilepsy typically caused by de novo dominant mutations in the SCN1A gene encoding the voltage-gated ...
تشنج عارضه شایعی است که بدلیل اختلال در مسیر انتقال پیام در سلول های عصبی یا نرون های مغزی رخ داده وعلل گسترده ای برای آن متصور است. ادامه حملات تشنجی منجر به بیماری صرع گردیده که شیوعی بین 1-3 درصد در جوامع مختلف دارد. گروهی از حملات صرعی بدون دلیل مشخص به دنبال تب یا بدون تب رخ داده، پیشرونده هستند و به درمان داروئی پاسخ نشان نمی دهند. علت نامشخص،تنوع در شدت و نوع بالینی، عوارض و پیامدهای شدی...
Abstract Background Epilepsy is one of the most common and heterogeneous neurological diseases. The main clinical signs disease are repeated symptomatic or idiopathic epileptic seizures both convulsive non-convulsive nature that develop against a background lost preserved consciousness. genetic component plays large role in etiology forms epilepsy. study molecular basis disorders has led to rap...
Dravet syndrome is the prototype of SCN1A-mutation associated epilepsies. It is characterised by prolonged seizures, typically provoked by fever. We describe the evaluation of an SCN1A mutation in a child with early-onset temperature-sensitive seizures. The patient carries a heterozygous missense variant (c3818C > T; pAla1273Val) in the NaV1.1 brain sodium channel. We compared the functional ef...
Dravet syndrome (DS) is one of the most pharmacoresistant and devastating forms of childhood epilepsy syndromes. Distinct de novo mutations in the SCN1A gene are responsible for over 80% of DS cases. While DS is largely resistant to treatment with existing anti-epileptic drugs, promising results have been obtained in clinical trials with human patients treated with the serotonin agonist fenflur...
Dravet syndrome is a severe infantile onset epileptic encephalopathy associated with mutations in the sodium channel alpha 1 subunit gene SCN1A. To date no large studies have systematically examined the prognostic, clinical and demographic features of the disease. We prospectively collected data on a UK cohort of individuals with Dravet syndrome during a 5-year study period and analysed demogra...
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