Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia
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DOI: 10.1111/cge.12783
Abstract: Congenital ataxias are nonprogressive neurological disorders characterized by neonatal hypotonia, developmental delay and ataxia, variably associated with intellectual disability and other neurological or extraneurological features. We performed trio‐based whole‐exome sequencing of 12 families with congenital… read more here.
Keywords: congenital ataxia; ataxia; irbit domain; domain itpr1 ... See more keywords
Congenital ataxia due to novel variant in ATP8A2
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DOI: 10.1111/cge.13954
Abstract: Congenital ataxias are a heterogeneous group of disorders characterized by congenital or early‐onset ataxia. Here, we describe two siblings with congenital ataxia, who acquired independent gait by age 4 years. After 16 years of follow‐up they presented… read more here.
Keywords: ataxia due; congenital ataxia; novel variant; due novel ... See more keywords
Characterization of novel CACNA1A splice variants by RNA-sequencing in patients with episodic or congenital ataxia.
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DOI: 10.1111/cge.14358
Abstract: Loss of function variants in CACNA1A cause a broad spectrum of neurological disorders, including episodic ataxia, congenital or progressive ataxias, epileptic manifestations or developmental delay. Variants located on the AG/GT consensus splice sites are usually… read more here.
Keywords: splice; rna sequencing; novel cacna1a; patients episodic ... See more keywords