Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, andGPR56gene mutations
نویسندگان
چکیده
منابع مشابه
Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations.
PURPOSE Bilateral frontoparietal polymicrogyria (BFPP) has been reported in sporadic patients and in recessive pedigrees. Eleven mutations in GPR56, a gene encoding an evolutionarily dynamic G-protein-coupled receptor, have been identified in 29 patients from 18 families. The clinical features of BFPP include severe mental retardation, motor and language impairment, and epilepsy. No detailed de...
متن کاملLennox-Gastaut syndrome
بيصت ةديدش ةيعرص ةمزلاتم يه وتساج سكونيل ةمزلاتم ةرركتمو ةعونتم ةيبصع تاجنشت ةباصإب زيمتتو لافطلأا ةئيطب ةيئابرهك تانحشو روهدتم ينهذ رخأتب ةبوحصم نادقفب ةبوحصلما ةيبصعلا تاجنشتلا لثتمو .غامدلا طيطختب ةيعون روهدتو ةيدسلجا تاباصلإاب ةروطخ طوقسلاو ةكرلحا ةلوهسب بيجتست لا تاجنشتلا هذه نأ ملعلا عم .ةيمويلا ةايلحا .ضرغلا اذهل ديامانيفورلا راقع ريوطت تم اًيلاحو يئاودلا جلاعلل ضعب مادختسا نكميف يئاودلا ...
متن کاملLennox-Gastaut syndrome
By Mary C Spiciarich MD (Dr. Spiciarich of Albert Einstein College of Medicine and Montefiore Medical Center has no relevant financial relationships to disclose.) Solomon L Moshe MD (Dr. Moshe of Albert Einstein College of Medicine received honorariums from Eisai for speaking engagements and from UCB as a member of the data and safety monitoring board.) Originally released July 26, 1994; last u...
متن کاملLennox-Gastaut syndrome (LGS)
Key-words Disease name and synonymes Excluded diseases Diagnostic criteria / definition Differential diagnosis Frequency Clinical description Management including treatment Etiology Diagnostic methods Genetic counselling Unresolved questions References Abstract Lennox-Gastaut syndrome (LGS) belongs to the group of severe childhood epileptic encephalopathies. This disorder is defined as a crypto...
متن کاملlennox-Gastaut syndrome: an updateon treatment.
Lennox-Gastaut syndrome (LGS) is a severe epileptic encephalopathy. Few current treatment options are effective in improving seizure control. This paper reviews the available treatments of LGS and discusses a new option in Canada, rufinamide. It is a wide spectrum anticonvulsant, approved in a number of countries for the treatment of LGS. In a randomized controlled trial in the LGS population, ...
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ژورنال
عنوان ژورنال: Epilepsia
سال: 2009
ISSN: 0013-9580,1528-1167
DOI: 10.1111/j.1528-1167.2008.01787.x