Episodic Ataxia

10/01/2023 - "A De Novo HECW2 Variant in a Patient with Acetazolamide-Responsive Episodic Ataxia."
06/01/2019 - "Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene."
10/01/2011 - "Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation."
06/15/2003 - "We report a Japanese family with acetazolamide-responsive episodic ataxia. "
06/15/2003 - "A novel insertion mutation of acetazolamide-responsive episodic ataxia in a Japanese family."

07/15/2008 - "Potassium channel blocker 4-aminopyridine is effective in interictal cerebellar symptoms in episodic ataxia type 2--a video case report."

07/15/2008 - "Potassium channel blocker 4-aminopyridine is effective in interictal cerebellar symptoms in episodic ataxia type 2--a video case report."

07/01/2017 - "Acetazolamide provided symptomatic relief in patients with episodic ataxia, while steroids were beneficial in patients with an inflammatory etiology. "

02/01/2002 - "We encountered a previously healthy girl with complete biotinidase deficiency presenting initially at age 17 months with episodic ataxia that became severe progressive ataxia in 2 months, but without skin rash or typical organic aciduria, which resolved completely with biotin treatment. "

03/01/2006 - "Episodic ataxia type-2 (EA2) is caused by mutations in P/Q-type voltage-gated calcium channels that are expressed at high densities in cerebellar Purkinje cells. "
07/26/2005 - "New calcium channel mutations predict aberrant RNA splicing in episodic ataxia."
06/01/2010 - "Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy."
11/01/2009 - "Large scale calcium channel gene rearrangements in episodic ataxia and hemiplegic migraine: implications for diagnostic testing."
06/01/2009 - "Recent observations suggest that the human episodic ataxia 2 (EA2) and spinocerebellar ataxia types 6 (SCA6), 12 (SCA12), and 14 (SCA14) might be associated with impaired phosphorylation levels of cerebellum calcium channels and receptors. "

10/11/2018 - "Whole-Exome Sequencing Implicates SCN2A in Episodic Ataxia, but Multiple Ion Channel Variants May Contribute to Phenotypic Complexity."
05/01/2009 - "Mutations in two neuronal ion-channel genes KCNA1 and CACNA1A abundantly expressed in the cerebellum account for the majority of the identified cases of episodic ataxia. "
09/01/1998 - "In another group of dominant disorders, episodic ataxia type I and type 2 (EA-I, EA-2) and SCA6, the mutations affect genes that code for ion channels."
01/01/2017 - "Episodic ataxia is an autosomal dominant ion channel disorder characterized by episodes of imbalance and incoordination. "
02/01/2010 - "Episodic ataxia is an autosomal dominant ion channel disorder characterized by paroxysmal attacks of incoordination. "

11/30/2011 - "These results provide an understanding of the molecular etiology underlying episodic ataxia type-1 due to V408A, as well as biophysical insights into the links between the potassium channel activation gate, the voltage sensor and the selectivity filter."
11/30/2011 - "Mechanism of accelerated current decay caused by an episodic ataxia type-1-associated mutant in a potassium channel pore."
10/08/2004 - "An episodic ataxia type-1 mutation in the S1 segment sensitises the hKv1.1 potassium channel to extracellular Zn2+."
04/15/1998 - "Episodic ataxia mutations in Kv1.1 alter potassium channel function by dominant negative effects or haploinsufficiency."
12/01/1995 - "Episodic ataxia results from voltage-dependent potassium channels with altered functions."

04/15/1998 - "Subunits of the voltage-gated potassium channel Kv1.1 containing mutations responsible for episodic ataxia (EA), a human inherited neurological disease, were expressed in Xenopus oocytes. "
01/01/2023 - "There are currently no drugs known to rescue the function of Kv1.1 voltage-gated potassium channels carrying loss-of-function sequence variants underlying the inherited movement disorder, Episodic Ataxia 1 (EA1). "
10/14/2020 - "(1) Background: Episodic ataxia type 1 is caused by mutations in the KCNA1 gene encoding for the voltage-gated potassium channel Kv1.1. There have been many mutations in Kv1.1 linked to episodic ataxia reported and typically investigated by themselves or in small groups. "
04/01/2007 - "Myokymia with episodic ataxia is a rare, autosomal dominant trait caused by mutations in KCNA1, encoding a voltage-gated potassium channel. "
10/08/2004 - "Episodic ataxia type-1 (EA1) is a human neurological syndrome characterized by attacks of generalized ataxia and by continuous myokymia that has been associated with point mutations in the voltage-gated potassium channel gene KCNA1. "

01/01/2016 - "A CaV2.1 N-terminal fragment relieves the dominant-negative inhibition by an Episodic ataxia 2 mutant."
06/01/2004 - "Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2."
09/01/2010 - "The Rolling mouse Nagoya (Cacna1a(tg-rol)) is a spontaneous P/Q type VDCC mutant, which has been suggested as an animal model for some human neurological diseases such as autosomal dominant cerebellar ataxia (SCA6), familial hemiplegic migraine and episodic ataxia type-2. "
01/01/2020 - "Human mutations in the CACNA1A gene that encodes the pore-forming α1A subunit of the voltage-gated CaV2.1 (P/Q-type) Ca2+ channel cause multiple neurological disorders including sporadic and familial hemiplegic migraine, as well as cerebellar pathologies such as episodic ataxia, progressive ataxia, and early-onset cerebellar syndrome consistent with the definition of congenital ataxia (CA), with presentation before the age of 2 years. "
01/01/2016 - "Episodic ataxia 2 (EA2) is an autosomal dominant disorder caused by mutations in the gene CACNA1A that encodes the pore-forming CaV2.1 calcium channel subunit. "

01/01/2021 - "These results could have implications for clinical practice in future and highlight the need for the development of individualized and targeted therapies for episodic ataxia and genetic paroxysmal disorders in general."
01/01/2021 - "Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature."
01/01/2018 - "Four-aminopyridine is now considered first-line symptomatic therapy for episodic ataxia type-2, with pre-clinical findings indicating cerebellar neuroprotection. "

09/01/2013 - "Considerable advances have been made in the pharmacotherapy of vertigo disorders during the last 10 years, including cortisone for the treatment of acute vestibular neuritis, betahistine as a high-dose long-term treatment for Menière's disease, carbamazepine to treat vestibular paroxysmia and aminopyridine for down- and upbeat nystagmus and episodic ataxia type 2. "