POLG1 mutations in bipolar disorders
نویسندگان
چکیده
منابع مشابه
POLG1 mutations associated with progressive encephalopathy in childhood.
We have identified compound heterozygous missense mutations in POLG1, encoding the mitochondrial DNA polymerase gamma (Pol gamma), in 7 children with progressive encephalopathy from 5 unrelated families. The clinical features in 6 of the children included psychomotor regression, refractory seizures, stroke-like episodes, hepatopathy, and ataxia compatible with Alpers-Huttenlocher syndrome. Thre...
متن کاملPOLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
The epileptic semiology of 19 patients (from 15 families) with mitochondrial disease due to mutations in the POLG1 gene is presented. The patients were either homozygous for the 1399G > A (p.A467T) or 2243G > C (p.W748S) mutations or compound heterozygotes for these two mutations. While the clinical features have been reviewed, detailed analysis of their epilepsy is presented for the first time...
متن کاملPOLG1 manifestations in childhood.
OBJECTIVE Mitochondrial DNA polymerase γ (POLG1) mutations in children often manifest as Alpers syndrome, whereas in adults, a common manifestation is mitochondrial recessive ataxia syndrome (MIRAS) with severe epilepsy. Because some patients with MIRAS have presented with ataxia or epilepsy already in childhood, we searched for POLG1 mutations in neurologic manifestations in childhood. METHO...
متن کاملPsychiatric disorders and behavioral functions in offsprings of bipolar parents
Introduction: Psychiatric disorders and function of child and adolescent offsprings of bipolar parents were compared to that of their peers with healthy parents. Methods: In this case - control study, 52 bipolar parents along with their 72 children were compared with 48 healthy and their 63 children. The subjects were selected by simple and available methods. K-SADS, C-GAS were to collect...
متن کاملCariprazine in bipolar disorders.
Key Study Findings The authors report a multicenter (N = 497), randomized, double-blind, placebo-controlled study (NCT01058668). Patients were randomly assigned to placebo, cariprazine 3–6 mg/d, or cariprazine 6–12 mg/d for 3 weeks. The primary outcome was change from baseline to week 3 utilizing the Young Mania Rating Scale (YMRS). Both cariprazine groups were statistically significantly super...
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ژورنال
عنوان ژورنال: Psychiatry and Clinical Neurosciences
سال: 2017
ISSN: 1323-1316
DOI: 10.1111/pcn.12509