Results 11 to 20 of about 5,459 (165)
CACNA1A variants may modify the epileptic phenotype of Dravet syndrome [PDF]
Neurobiology of Disease, 2013 Dravet syndrome is an intractable epileptic syndrome beginning in the first year of life. De novo mutations of SCN1A, which encode the Nav1.1 neuronal voltage-gated sodium channel, are considered the major cause of Dravet syndrome.
Iori Ohmori +8 more
doaj +2 more sources
CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability [PDF]
BrainHaploinsufficiency of the CACNA1A gene, encoding the pore-forming α1 subunit of P/Q-type voltage-gated calcium channels, is associated with a clinically variable phenotype ranging from cerebellar ataxia, to neurodevelopmental syndromes with epilepsy and ...
Xavier le Guillou Horn +2 more
exaly +6 more sources
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
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
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
doaj +2 more sources
Mutation analysis of CACNA1A gene in Iranian migrainous and review literatures
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
doaj +1 more source
Episodic ataxia type 2 with a novel missense variant (Leu602Arg) in CACNA1A
Human Genome VariationAutosomal dominant episodic ataxia type 2 (EA2) is caused by variants in CACNA1A. We examined a 20-year-old male with EA symptoms from a Japanese family with hereditary EA.
Shiroh Miura +10 more
doaj +2 more sources
Scn1a and Cacna1a mutations mutually alter their original phenotypes in rats [PDF]
, 2020 This study aimed to examine the effects of Cacna1a mutation on the phenotype of Scn1a-associated epilepsy in rats. We used rats with an N1417H missense mutation in the Scn1a gene and others with an M251K mutation in the Cacna1a gene. Scn1a/Cacna1a double
Kobayashi, Kiyoka +2 more
core +2 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
Case Reports in Neurology, 2021 Mutations in the CACNA1A gene show a wide range of neurological phenotypes including hemiplegic migraine, ataxia, mental retardation and epilepsy.
Anker Stubberud +4 more
doaj +1 more source