Nervous system ion channel mutations (Channelopathies)
Episodic ataxia (EA) is an autosomal dominant disorder characterized by sporadic bouts of ataxia (severe discoordination) with or without myokymia (continuous muscle movement). There are seven types recognized but the majority are due to two recognized entities.[1] Ataxia can be provoked by psychological stress or startle, or heavy exertion, including exercise. Symptoms can first appear in infancy. There are at least six loci for EA, of which 4 are known genes. Some patients with EA also have migraine or progressive cerebellar degenerative disorders, symptomatic of either familial hemiplegic migraine or spinocerebellar ataxia. Some patients respond to acetazolamide though others do not.
Episodicataxia (EA) is an autosomal dominant disorder characterized by sporadic bouts of ataxia (severe discoordination) with or without myokymia (continuous...
permanent and progressive, differentiating it from episodicataxia type 2 (EA2) where said dysfunction is episodic. In some SCA6 families, some members show these...
spinocerebellar ataxia, episodicataxia, and dentatorubropallidoluysian atrophy, as well as autosomal recessive disorders such as Friedreich's ataxia (sensory...
from other seemingly similar forms of neurological syndromes such as episodicataxia types 1 and 2. Due to its rarity, however, little is known about specific...
Clinical overlap occurs in some FHM patients with episodicataxia type 2 and spinocerebellar ataxia type 6, benign familial infantile epilepsy, and alternating...
signs result in a phenotypic overlap between FHM and both episodicataxia and spinocerebellar ataxia. This is unsurprising as subtypes of these disorders (FHM1...
treatment of vestibular migraine, and 4-aminopyridine for the treatment of episodicataxia type 2 and both downbeat and upbeat nystagmus. Calcium channel blockers...
symptoms occur episodically when a fever-related infection is present within the body. The name is an acronym for "cerebellar ataxia, areflexia, pes...
mutations are also known as synaptic channelopathies. An example is episodicataxia. Myasthenia gravis is an example of an autoimmune synaptopathy. Some...
cases, the deletion also affects CACNA1A, which is associated with episodicataxia type 2 or familial hemiplegic migraine. Nearly all cases are caused...
myotonias (PAM) Generalized epilepsy with febrile seizures plus (GEFS+) Episodicataxia (EA), characterized by sporadic bouts of severe discoordination with...
beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodicataxia". American Journal of Human Genetics. 66 (5): 1531–1539. doi:10.1086/302909...
2 bipolar disorder collagenopathy, types II and XI cornea plana 2 episodicataxia hereditary hemorrhagic telangiectasia hypochondrogenesis ichthyosis...
dystonic choreoathetosis, paroxysmal kinesogenic choreoathetosis, or episodicataxia type 1. Hypermotor seizure in children are often confused with pavor...
cases will harbor mutations in PRRT2. It has also been associated with episodicataxias, and in particular in combination with various types of epilepsy. Mutations...
Pessia M (August 1999). "Mutations in the KCNA1 gene associated with episodicataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function"...
Pessia M (August 1999). "Mutations in the KCNA1 gene associated with episodicataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function"...
with large deficits of attention of the non-dominant hemisphere. Optic ataxia is associated with difficulties reaching toward objects in the visual field...
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