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Quoted phrase not found in phrase index: "Episodic ataxia type 7"
Page 1
Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.
Corbett MA, Bellows ST, Li M, Carroll R, Micallef S, Carvill GL, Myers CT, Howell KB, Maljevic S, Lerche H, Gazina EV, Mefford HC, Bahlo M, Berkovic SF, Petrou S, Scheffer IE, Gecz J. Corbett MA, et al. Neurology. 2016 Nov 8;87(19):1975-1984. doi: 10.1212/WNL.0000000000003309. Epub 2016 Oct 12. Neurology. 2016. PMID: 27733563 Free PMC article.
OBJECTIVE: To identify the genetic basis of a family segregating episodic ataxia, infantile seizures, and heterogeneous epilepsies and to study the phenotypic spectrum of KCNA2 mutations. ...KCNA2 was sequenced in 35 probands with heterogeneous phenotypes. RESULTS: …
OBJECTIVE: To identify the genetic basis of a family segregating episodic ataxia, infantile seizures, and heterogeneous epilep …
The dynamic regulation of cortical excitability is altered in episodic ataxia type 2.
Helmich RC, Siebner HR, Giffin N, Bestmann S, Rothwell JC, Bloem BR. Helmich RC, et al. Brain. 2010 Dec;133(Pt 12):3519-29. doi: 10.1093/brain/awq315. Brain. 2010. PMID: 21126994
We tested this hypothesis in patients with episodic ataxia type 2 (n = 6), patients with familial hemiplegic migraine (n = 7) and healthy controls (n = 13). ...Patients with familial hemiplegic migraine were not significantly different from either controls or …
We tested this hypothesis in patients with episodic ataxia type 2 (n = 6), patients with familial hemiplegic migraine ( …
A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias.
Strupp M, Kalla R, Claassen J, Adrion C, Mansmann U, Klopstock T, Freilinger T, Neugebauer H, Spiegel R, Dichgans M, Lehmann-Horn F, Jurkat-Rott K, Brandt T, Jen JC, Jahn K. Strupp M, et al. Neurology. 2011 Jul 19;77(3):269-75. doi: 10.1212/WNL.0b013e318225ab07. Epub 2011 Jul 6. Neurology. 2011. PMID: 21734179 Free PMC article. Clinical Trial.
Nonparametric tests and a random-effects model were used for statistical analysis. RESULTS: The diagnosis of episodic ataxia type 2 (EA2) was genetically confirmed in 7 subjects. ...LEVEL OF EVIDENCE: This crossover study provides Class II evidence that 4AP d …
Nonparametric tests and a random-effects model were used for statistical analysis. RESULTS: The diagnosis of episodic ataxia …
Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations.
Wuttke TV, Jurkat-Rott K, Paulus W, Garncarek M, Lehmann-Horn F, Lerche H. Wuttke TV, et al. Neurology. 2007 Nov 27;69(22):2045-53. doi: 10.1212/01.wnl.0000275523.95103.36. Epub 2007 Sep 13. Neurology. 2007. PMID: 17872363
BACKGROUND: Peripheral nerve hyperexcitability (PNH) is characterized by muscle overactivity due to spontaneous discharges of lower motor neurons usually associated with antibodies against voltage-gated potassium channels. PNH may also occur in combination with episodic …
BACKGROUND: Peripheral nerve hyperexcitability (PNH) is characterized by muscle overactivity due to spontaneous discharges of lower motor ne …
Principal component analysis of cerebellar shape on MRI separates SCA types 2 and 6 into two archetypal modes of degeneration.
Jung BC, Choi SI, Du AX, Cuzzocreo JL, Geng ZZ, Ying HS, Perlman SL, Toga AW, Prince JL, Ying SH. Jung BC, et al. Cerebellum. 2012 Dec;11(4):887-95. doi: 10.1007/s12311-011-0334-6. Cerebellum. 2012. PMID: 22258915 Free PMC article.
Indeed, spinocerebellar ataxia (SCA) types 2 and 6 demonstrate complementary phenotypes, thus predicting a different anatomic pattern of degeneration. Here, we show that an unsupervised classification method, based on principal component analysis (PCA) of cerebellar shape …
Indeed, spinocerebellar ataxia (SCA) types 2 and 6 demonstrate complementary phenotypes, thus predicting a different anatomic pattern …
Single-fiber electromyography-based diagnosis of CACNA1A mutation in children: A potential role of the electrodiagnosis in the era of whole exome sequencing.
Hirasawa-Inoue A, Ishiyama A, Takeshita E, Shimizu-Motohashi Y, Saito T, Komaki H, Nakagawa E, Yuasa S, Saitsu H, Hamanaka K, Miyatake S, Matsumoto N, Sasaki M. Hirasawa-Inoue A, et al. Brain Dev. 2019 Nov;41(10):905-909. doi: 10.1016/j.braindev.2019.06.006. Epub 2019 Jul 6. Brain Dev. 2019. PMID: 31288946
INTRODUCTION: A loss-of-function mutation in CACNA1A, which encodes P/Q-type Ca channels, causes various diseases. As most of the Ca channels at neuromuscular junctions are of the P/Q type, patients with loss-of-function CACNA1A mutations exhibit disturbed neuromusc …
INTRODUCTION: A loss-of-function mutation in CACNA1A, which encodes P/Q-type Ca channels, causes various diseases. As most of the Ca …