Mutation analysis of CACNA1A gene in Iranian migrainous and review literatures [PDF]
Journal of Research in Medical Sciences, 2013 Background: There are contrary results about the role of CACNA1A gene in the causation of common migraine in different populations. However, migraine may be genetically heterogeneous and more studies in different families and populations are required for
Rokhsareh Meamar +6 more
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New CACNA1A deletions are associated to migraine phenotypes
The Journal of Headache and Pain, 2018 Background Familial hemiplegic migraine type 1 (FHM1) is a form of migraine with aura caused by heterozygous mutations in 4 genes: CACNA1A, ATP1A2, SNC1A and PRRT2, but further heterogeneity is expected.
G. S. Grieco +8 more
doaj +2 more sources
Longitudinal MRI brain findings in the R1349Q pathogenic variant of CACNA1A
Radiology Case Reports, 2021 Pathogenic CACNA1A gene variants are associated with a spectrum of disorders including migraine with or without hemiplegia, ataxia, epilepsy, and developmental disability.
Chang Y. Ho, MD +3 more
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Developing a pathway to clinical trials for -related epilepsies: A patient organization perspective [PDF]
Therapeutic Advances in Rare DiseaseCACNA1A-related disorders are rare neurodevelopmental disorders linked to variants in the CACNA1A gene. This gene encodes the α1 subunit of the P/Q-type calcium channel Cav2.1, which is globally expressed in the brain and crucial for fast synaptic ...
Pangkong M. Fox +4 more
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Novel missense variant of CACNA1A gene in a Slovak family with episodic ataxia type 2
Biomedical Papers, 2017 Introduction: Episodic ataxias (EAs) are rare dominantly inherited neurological disorders characterized by recurrent episodes of ataxia lasting minutes to hours.
Andrea Petrovicova +10 more
doaj +3 more sources
Successful bilateral electroconvulsive therapy for catatonia presenting with novel climbing behavior in an adolescent with CACNA1A pathogenic variant and autism spectrum disorder: a case report [PDF]
Frontiers in PsychiatryPathogenic gene variants are relatively common in patients with neurodevelopment disorders comorbid with catatonia. In this report, we describe diagnosis and the treatment of catatonia in a 16-year-old boy with a CACNA1A pathogenic variant (which is ...
Lana Abdole +5 more
doaj +2 more sources
Ocular Manifestation of CACNA1A Pathogenic Variants [PDF]
Pediatric Neurology Briefs, 2016 Investigators from The Children’s Hospital at Westmead in New South Wales; The Queensland University of Technology in Brisbane; Sydney Children’s Hospital in New South Wales and Laboratoire de Genetique in Paris investigated children with a proven ...
Karit Reinson, Katrin Õunap
doaj +2 more sources
New ataxic tottering-6j mouse allele containing a Cacna1a gene mutation.
PLoS ONE, 2012 Voltage-gated Ca(2+) (Ca(v)) channels control neuronal functions including neurotransmitter release and gene expression. The Cacna1a gene encodes the α1 subunit of the pore-forming Ca(v)2.1 channel.
Weidong Li +10 more
doaj +2 more sources
Next-generation sequencing identifies novel CACNA1A gene mutations in episodic ataxia type 2. [PDF]
Mol Genet Genomic Med, 2016 Episodic Ataxia type 2 (EA2) is a rare autosomal dominantly inherited neurological disorder characterized by recurrent disabling imbalance, vertigo and episodes of ataxia lasting minutes to hours. EA2 is caused most often by loss of function mutations of
Maksemous N +3 more
europepmc +3 more sources
Stem Cell Research, 2022 CACNA1A encodes a P/Q-type voltage-gated calcium channel. Heterozygous loss-of-function variants in this gene have been associated with episodic ataxia type 2.
Marina P. Hommersom +5 more
doaj +1 more source