Episodic ataxia (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 episodic ataxia type 2 (EA2) where said dysfunction is episodic. In some SCA6 families, some members show these...

spinocerebellar ataxia, episodic ataxia, and dentatorubropallidoluysian atrophy, as well as autosomal recessive disorders such as Friedreich's ataxia (sensory...

Dandy–Walker syndrome Dysequilibrium syndrome Epilepsy Episodic ataxia Post viral cerebellar ataxia Gerstmann–Sträussler–Scheinker syndrome Machado–Joseph...

from other seemingly similar forms of neurological syndromes such as episodic ataxia types 1 and 2. Due to its rarity, however, little is known about specific...

Navy Environmental assessment, a legislative decision-making process Episodic ataxia, an incoordination disorder EA, a designation for the El-Amarna letters...

disorders, including familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6. "Voltage-dependent calcium channels mediate...

Clinical overlap occurs in some FHM patients with episodic ataxia type 2 and spinocerebellar ataxia type 6, benign familial infantile epilepsy, and alternating...

signs result in a phenotypic overlap between FHM and both episodic ataxia and spinocerebellar ataxia. This is unsurprising as subtypes of these disorders (FHM1...

treatment of vestibular migraine, and 4-aminopyridine for the treatment of episodic ataxia type 2 and both downbeat and upbeat nystagmus. Calcium channel blockers...

and neurological consequences in vivo. Mutations in this gene cause episodic ataxia type 1. GABRA3 - a channel subunit which undergoes similar RNA editing...

4103/aian.aian_486_22. ISSN 0972-2327. PMC 9996497. PMID 36911462. "EPISODIC ATAXIA, TYPE 1; EA1". www.omim.org. Retrieved 2023-12-27. "MYASTHENIC SYNDROME...

symptoms occur episodically when a fever-related infection is present within the body. The name is an acronym for "cerebellar ataxia, areflexia, pes...

other tissues including cardiac myocytes. It is associated with type 6 episodic ataxia. EAAT1 expression may also be associated with osteoarthritis....

fibrosis Chloride channel Dravet syndrome Voltage-gated sodium channel Episodic ataxia Voltage-gated potassium channel Erythromelalgia Voltage-gated sodium...

myotonias (PAM) Generalized epilepsy with febrile seizures plus (GEFS+) Episodic ataxia (EA), characterized by sporadic bouts of severe discoordination with...

mutations are also known as synaptic channelopathies. An example is episodic ataxia. Myasthenia gravis is an example of an autoimmune synaptopathy. Some...

2 bipolar disorder collagenopathy, types II and XI cornea plana 2 episodic ataxia hereditary hemorrhagic telangiectasia hypochondrogenesis ichthyosis...

cases, the deletion also affects CACNA1A, which is associated with episodic ataxia type 2 or familial hemiplegic migraine. Nearly all cases are caused...

dystonic choreoathetosis, paroxysmal kinesogenic choreoathetosis, or episodic ataxia type 1. Hypermotor seizure in children are often confused with pavor...

beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia". American Journal of Human Genetics. 66 (5): 1531–1539. doi:10.1086/302909...

and deafness; 132450; COL2A1 Episodic ataxia, type 2; 108500; CACNA1A Episodic ataxia, type 6; 612656; SLC1A3 Episodic ataxia/myokymia syndrome; 160120;...

Pessia M (August 1999). "Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function"...

human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy". Brain. 122 (5): 817–825...

with large deficits of attention of the non-dominant hemisphere. Optic ataxia is associated with difficulties reaching toward objects in the visual field...

Pessia M (August 1999). "Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K(+) channel function"...

cases will harbor mutations in PRRT2. It has also been associated with episodic ataxias, and in particular in combination with various types of epilepsy. Mutations...

MH, Ferrari MD, Frants RR (1996). "Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4"....

beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia". Am. J. Hum. Genet. 66 (5): 1531–9. doi:10.1086/302909. PMC 1378014...

SA Friedreich's ataxia Ataxia–telangiectasia MND UMN only: Primary lateral sclerosis Pseudobulbar palsy Hereditary spastic paraplegia LMN only: Distal...