Idiopathic Generalized Epilepsy and Hypokalemic Periodic Paralysisin a Family of South Indian Descent
المؤلفون المشاركون
Subramanian, Muthiah
Senthil, N.
Sujatha, S.
المصدر
Case Reports in Neurological Medicine
العدد
المجلد 2015، العدد 2015 (31 ديسمبر/كانون الأول 2015)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2015-03-26
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Inherited channelopathies are a heterogeneous group of disorders resulting from dysfunction of ion channels in cellular membranes.
They may manifest as diseases affecting skeletal muscle contraction, the conduction system of the heart, nervous system function, and vision syndromes.
We describe a family of South Indian descent with hypokalemic periodic paralysis in which four members also have idiopathic generalized epilepsy.
Hypokalemic periodic paralysis is a genetically heterogeneous channelopathy that has been linked to mutations in genes encoding three ion channels CACNIAS, SCN4A, and KCNJ2 predominantly.
Although data on specific gene in idiopathic generalized epilepsy is relatively scarce, mutations of voltage gated sodium channel subunit genes (CACNB4) and nonsense mutations in voltage gated calcium channels (CACNA1A) have been linked to idiopathic generalized epilepsy in two families.
We speculate that gene mutations altering the ability of the beta subunit to interact with the alpha subunit of the CaV1.1 channel and mutations in the pore-forming potassium channel subunit may be possible explanations for the combined manifestation of both diseases.
Functional analysis of voltage gated calcium channel and other ion channels mutations may provide additional support and insight for the causal role of these mutations.
The understanding of mutations in ion-channel genes will lead to improved diagnosis and treatment of such inherited channelopathies.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Subramanian, Muthiah& Senthil, N.& Sujatha, S.. 2015. Idiopathic Generalized Epilepsy and Hypokalemic Periodic Paralysisin a Family of South Indian Descent. Case Reports in Neurological Medicine،Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1059071
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Subramanian, Muthiah…[et al.]. Idiopathic Generalized Epilepsy and Hypokalemic Periodic Paralysisin a Family of South Indian Descent. Case Reports in Neurological Medicine No. 2015 (2015), pp.1-5.
https://search.emarefa.net/detail/BIM-1059071
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Subramanian, Muthiah& Senthil, N.& Sujatha, S.. Idiopathic Generalized Epilepsy and Hypokalemic Periodic Paralysisin a Family of South Indian Descent. Case Reports in Neurological Medicine. 2015. Vol. 2015, no. 2015, pp.1-5.
https://search.emarefa.net/detail/BIM-1059071
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1059071
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر