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Quoted phrase not found in phrase index: "Episodic ataxia type 7"
Page 1
Rare CACNA1A mutations leading to congenital ataxia.
Izquierdo-Serra M, Fernández-Fernández JM, Serrano M. Izquierdo-Serra M, et al. Pflugers Arch. 2020 Jul;472(7):791-809. doi: 10.1007/s00424-020-02396-z. Epub 2020 May 26. Pflugers Arch. 2020. PMID: 32458086 Review.
Human mutations in the CACNA1A gene that encodes the pore-forming alpha(1A) subunit of the voltage-gated Ca(V)2.1 (P/Q-type) Ca(2+) channel cause multiple neurological disorders including sporadic and familial hemiplegic migraine, as well as cerebellar pathologies such as …
Human mutations in the CACNA1A gene that encodes the pore-forming alpha(1A) subunit of the voltage-gated Ca(V)2.1 (P/Q-type) Ca(2+) c …
Episodic ataxia type 1: clinical characterization, quality of life and genotype-phenotype correlation.
Graves TD, Cha YH, Hahn AF, Barohn R, Salajegheh MK, Griggs RC, Bundy BN, Jen JC, Baloh RW, Hanna MG; CINCH Investigators. Graves TD, et al. Brain. 2014 Apr;137(Pt 4):1009-18. doi: 10.1093/brain/awu012. Epub 2014 Feb 26. Brain. 2014. PMID: 24578548 Free PMC article.
Ten participants (26%) developed permanent cerebellar signs, which were related to disease duration. The average Scale for the Assessment and Rating of Ataxia score (SARA, a standardized measure of cerebellar dysfunction on clinical examination, scores range from 0- …
Ten participants (26%) developed permanent cerebellar signs, which were related to disease duration. The average Scale for the Assessment an …
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 …
Cognitive impairment in children with CACNA1A mutations.
Humbertclaude V, Riant F, Krams B, Zimmermann V, Nagot N, Annequin D, Echenne B, Tournier-Lasserve E, Roubertie A; Episodic Syndrome Consortium. Humbertclaude V, et al. Dev Med Child Neurol. 2020 Mar;62(3):330-337. doi: 10.1111/dmcn.14261. Epub 2019 May 21. Dev Med Child Neurol. 2020. PMID: 31115040 Free article.
METHOD: Children between the ages of 3 and 18 years harboring a pathogenic CACNA1A mutation associated with episodic ataxia, hemiplegic migraine, benign paroxysmal torticollis, benign paroxysmal vertigo, or benign paroxysmal tonic upgaze, were enrolled in this cross …
METHOD: Children between the ages of 3 and 18 years harboring a pathogenic CACNA1A mutation associated with episodic ataxia, h …
Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene.
Schesny M, Joncourt F, Tarnutzer AA. Schesny M, et al. Cerebellum. 2019 Jun;18(3):649-653. doi: 10.1007/s12311-018-0997-3. Cerebellum. 2019. PMID: 30607796
MRI of the brain was normal and peripheral-vestibular function was bilaterally intact. Based on genetic testing (episodic ataxia panel), a heterozygote splice site variant in intron 1 of the FGF14 gene was identified. This report adds important new evidence to previ …
MRI of the brain was normal and peripheral-vestibular function was bilaterally intact. Based on genetic testing (episodic ataxia …
Gabapentin Relieves Vertigo of Periodic Vestibulocerebellar Ataxia: 3 Cases and Possible Mechanism.
Coin JT, Vance JM. Coin JT, et al. Mov Disord. 2021 May;36(5):1264-1267. doi: 10.1002/mds.28491. Epub 2021 Jan 16. Mov Disord. 2021. PMID: 33452831
OBJECTIVE: The aim of this study was to report relief of optokinetic-triggered vertigo (OKTV) with low-dose gabapentin in three patients with periodic vestibulocerebellar ataxia [episodic ataxia type 4 (EA4); OMIM 606552]. METHODS: Clinical observations …
OBJECTIVE: The aim of this study was to report relief of optokinetic-triggered vertigo (OKTV) with low-dose gabapentin in three patients wit …
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. ...CONCLUSIONS: This controlled trial on EA2 and familial episodic …
Nonparametric tests and a random-effects model were used for statistical analysis. RESULTS: The diagnosis of episodic ataxia …
A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia.
Hasan S, Bove C, Silvestri G, Mantuano E, Modoni A, Veneziano L, Macchioni L, Hunter T, Hunter G, Pessia M, D'Adamo MC. Hasan S, et al. Sci Rep. 2017 Jul 4;7(1):4583. doi: 10.1038/s41598-017-03041-z. Sci Rep. 2017. PMID: 28676720 Free PMC article.
We have identified a novel heterozygous mutation in the KCNA1 gene of a young proband displaying typical signs and symptoms of Episodic Ataxia type 1 (EA1). This mutation is in the S4 helix of the voltage-sensing domain and results in the substitution of the …
We have identified a novel heterozygous mutation in the KCNA1 gene of a young proband displaying typical signs and symptoms of Episodic …
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.
Patients with SCA2 (n=11) and SCA6 (n=7) were compared against controls (n=15) using PCA to classify cerebellar anatomic shape characteristics. ...In comparison, Archetype #2 was comprised of disease groups with pure cerebellar atrophy (episodic ataxia typ …
Patients with SCA2 (n=11) and SCA6 (n=7) were compared against controls (n=15) using PCA to classify cerebellar anatomic shape charac …
12 results