Large genomic deletions in CACNA1A cause episodic ataxia type 2 [PDF]
Frontiers in Neurology, 2011 Episodic ataxia (EA) syndromes are heritable diseases characterized by dramatic episodes of imbalance and incoordination. Episodic ataxia type 2 (EA2), the most common and the best characterized subtype, is caused by mostly nonsense, splice site, small ...
Alhamza R Al-Bayati +2 more
exaly +4 more sources
CACNA1A loss-of-function affects neurogenesis in human iPSC-derived neural models [PDF]
Cellular and Molecular Life SciencesCACNA1A encodes the pore-forming α1A subunit of the CaV2.1 calcium channel, whose altered function is associated with various neurological disorders, including forms of ataxia, epilepsy, and migraine.
Ilaria Musante +10 more
doaj +3 more sources
Amyotrophic lateral sclerosis -plus patient with an intermediate-length CACNA1A allele: a Case Report [PDF]
Frontiers in GeneticsAmyotrophic lateral sclerosis (ALS), the most common type of motor neuron disease, primarily manifests as progressive weakness, atrophy, fasciculations, bulbar palsy, and pyramidal tract symptoms.
Xinyao Gao +7 more
doaj +2 more sources
Diagnostic Lag in Precision Medicine. [PDF]
Clin Pharmacol TherClinical Pharmacology &Therapeutics, EarlyView.
Heneberg P.
europepmc +2 more sources
M6A modification mediates CACNA1A stability to drive the progression of ovarian cancer by inhibiting ferroptosis [PDF]
Journal of Ovarian ResearchOvarian cancer is a particularly lethal form of cancer affecting the female reproductive system. Prior research indicates a strong link between RNA epigenetic modification and the development of cancer. How different RNA modifications interact and affect
Xieyang Gong +12 more
doaj +2 more sources
Movement Disorders in Developmental and Epileptic Encephalopathies. [PDF]
Mov Disord Clin PractAbstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Mohammad S +2 more
europepmc +2 more sources
CACNA1A Mutations Associated With Epilepsies and Their Molecular Sub-Regional Implications
Frontiers in Molecular Neuroscience, 2022 PurposePreviously, mutations in the voltage-gated calcium channel subunit alpha1 A (CACNA1A) gene have been reported to be associated with paroxysmal disorders, typically as episodic ataxia type 2.
Na He, Xiaoyu Liang, De-Tian Liu
exaly +3 more sources
Episodic Ataxia Type 2 Presenting with Fluctuating Weakness in a Child with a De Novo CACNA1A Variant [PDF]
ChildrenBackground: Episodic ataxia type 2 (EA2) is the most common subtype of episodic ataxia and is primarily caused by pathogenic variants in the CACNA1A gene. Although classically characterized by paroxysmal ataxia, CACNA1A-related disorders are increasingly
Sungyeon Park +3 more
doaj +2 more sources
Data-Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies. [PDF]
Mov Disord Clin PractAbstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Morales-Briceño H +6 more
europepmc +2 more sources
CACNA1A-p.Thr501Met mutation associated with familial hemiplegic migraine: a family report
The Journal of Headache and Pain, 2021 Background and aims Hemiplegic migraine (HM) is a rare form of migraine characterized by the presence of a motor and other types of aura. HM can be sporadic or familial.
Marina Romozzi +6 more
doaj +1 more source