Galloping tongue syndrome in a PRRT2 mutation carrier
نویسندگان
چکیده
منابع مشابه
MSX1 Mutation in Witkop Syndrome; A Case Report
The Witkop syndrome is a rare autosomal dominant disorder characterized by the absence of several teeth and abnormalities of the nails. This is the first report of a rare genetic tooth and nail syndrome diagnosed in a 2.5-year-old boy with early exfoliation of the primary canine, absence of the primary incisors, and nail dysplasia. A homozygous mutation was identified in 3’-UTR of MSX1 gene in ...
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The recent discovery of PRRT2 mutations in Paroxysmal Kinesigenic Dyskinesia (PKD) has spurred a number of studies on PRRT2 mutations and PRRT2 disorders including PKD, Benign Familial Infantile Epilepsy (BFIE), and Infantile Convulsions with Choreoathetosis (ICCA). Mutated PRRT2 is also implicated in several other paroxysmal neurological disorders, indicating a wide phenotypic spectrum of PRRT...
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A two-dimensional numerical model of a horse is presented that predicts the locomotory behaviors of galloping horses, including how stride frequency, stride length, and metabolic rate change from a slow canter to a fast gallop. In galloping, each limb strikes the ground sequentially, one after the other, with distinct time lags separating hind and forelimb footfalls. In the model, each stance l...
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Background & Objective: Recently, mutations in PRRT2 have been found to cause paroxysmal kinesigenic dyskinesia (PKD). However, only several reports have described the detailed clinical features of patients with the PRRT2 mutation compared to those without the mutation. Furthermore, 16p11.2 microdeletions including PRRT2 also have been reported in patients with PKD; however, it is unknown to wh...
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Background and Objectives: Jalili syndrome is a rare autosomal recessive genetic disorder, which so far, only 33 families with this disorder have been reported worldwide. Patients with this disease simultaneously develop cone-rod retinal dystrophy (CRD) and amelogenesis imperfecta (AI). In this study, a mutation causing Jalili syndrome, was investigated in an Iranian family. Case Report: The...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2019
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000377