منابع مشابه
Delineating the GRIN1 phenotypic spectrum
OBJECTIVE To determine the phenotypic spectrum caused by mutations in GRIN1 encoding the NMDA receptor subunit GluN1 and to investigate their underlying functional pathophysiology. METHODS We collected molecular and clinical data from several diagnostic and research cohorts. Functional consequences of GRIN1 mutations were investigated in Xenopus laevis oocytes. RESULTS We identified heteroz...
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OBJECTIVE SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1.6). SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. We aimed to delineate the phenotype associated with SCN8A mutations. METHODS We used high-throughput sequence analysis of the SCN8A gene in 683 patients with a range of epileptic encephalopathies. In addition, we ascertaine...
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are of Slavic origin, suggesting an ancestral mutation propagated through Slavic migration to Northern Romania and Eastern Germany, where our patients are living. Nevertheless, the mutation affects a CpG dinucleotide, which has a high mutation rate from 5methylated CG to TG and its complementary pair CA, suggesting that it could also be recurrent. Altogether, we show that KS patients may harbor...
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Pseudohypoparathyroidism (PHP) encompasses a heterogeneous group of disorders due to an inactivating mutation in the GNAS gene which encodes the a subunit of Gs proteins (Gsa). Gsa plays a crucial role in intracellular signal transduction of peptides, hormones and neurotransmitter receptors in multiple tissues. Key features of PHP include Albright Hereditary Osteodystrophy (AHO) and biochemical...
متن کاملPhenotypic spectrum of FARS2-deficiency
We read with interest the article by Vantroys et al. about two unrelated pediatric patients with FARS2-deficiency [1]. We have the following comments and concerns. Insomnia is a rare manifestation of a mitochondrial disorder(MID). Only in a study of 20 CPEO patients, 75% reported sleep dysfunction [2]. Did patient-2 take drugs that could explain sleeplessness? What were the results on polysomno...
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ژورنال
عنوان ژورنال: Neurology
سال: 2016
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000002740