V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations
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چکیده
In the article “V374A KCND3 Pathogenic Variant Associated With Paroxysmal Ataxia Exacerbations” by …
منابع مشابه
Mutations in KCND3 cause spinocerebellar ataxia type 22.
OBJECTIVE To identify the causative gene in spinocerebellar ataxia (SCA) 22, an autosomal dominant cerebellar ataxia mapped to chromosome 1p21-q23. METHODS We previously characterized a large Chinese family with progressive ataxia designated SCA22, which overlaps with the locus of SCA19. The disease locus in a French family and an Ashkenazi Jewish American family was also mapped to this regio...
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A case of ataxia telangiectasia in a 7 year-old boy associated with Hodgkin disease was presented. Abnormalities of motion along with repeated respiratory tract infections requiring hospitalization started when he was 2 years old. The patient was placed on MOPP protocol Hodgkin treatment in addition to replacement therapy as advised.
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Background: Genetic studies of late-onset sporadic ataxias (>40 years of age) are not routinely indicated. For unresolved cases, next-generation sequencing (NGS) tools, such as whole-exome sequencing (WES), are available for a definitive diagnosis. Case presentation: Our patient is a woman with a usual facial phenotype and anthropometry, who developed ataxia at 45 years of age, with no relevant...
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Familial hemiplegic migraine is a rare autosomal dominant disorder associated with stereotypic neurologic aura phenomena including hemiparesis. So far two chromosomal loci have been identified. Families linked to the chromosome 19 locus display missense mutations within the CACNL1A4 gene. Here we report on a family with familial hemiplegic migraine and cerebellar ataxia with recurrent episodes ...
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Three cases from one kindred who suffer from dominant paroxysmal ataxia are described. This is a rare benign non-progressive disorder of childhood onset, characterised by bouts of ataxia with abrupt onset lasting minutes or hours. Cases may be identified on the basis of a suggestive history, nystagmus persisting between episodes, and dominant inheritance. Treatment with acetazolamide is often d...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2021
ISSN: ['2376-7839']
DOI: https://doi.org/10.1212/nxg.0000000000000567