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Page 1
The electrophysiological footprint of CACNA1A disorders.
Indelicato E, Unterberger I, Nachbauer W, Eigentler A, Amprosi M, Zeiner F, Haberlandt E, Kaml M, Gizewski E, Boesch S. Indelicato E, et al. J Neurol. 2021 Jul;268(7):2493-2505. doi: 10.1007/s00415-021-10415-x. Epub 2021 Feb 5. J Neurol. 2021. PMID: 33544220 Free PMC article. Review.
OBJECTIVES: CACNA1A variants underlie three neurological disorders: familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6). ...Interictal epileptic discharges (IEDs) were detected in eig …
OBJECTIVES: CACNA1A variants underlie three neurological disorders: familial hemiplegic migraine type 1 (FHM1), episodic at
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 …
Coincidental occurance of episodic ataxia and multiple sclerosis: a case report and review of the literature.
Batum M, Kısabay Ak A, Çetin G, Çelebi HBG, Çam S, Mavioğlu H. Batum M, et al. Int J Neurosci. 2022 Jul;132(7):656-661. doi: 10.1080/00207454.2020.1835896. Epub 2020 Oct 20. Int J Neurosci. 2022. PMID: 33045894 Review.
INTRODUCTION: Episodic ataxia is a clinical condition characterized by episodes of balance and coordination problems that last minutes to hours. ...METHODS: In this article, we present a case of a patient who had a coincidental occurrence of episodic ataxi
INTRODUCTION: Episodic ataxia is a clinical condition characterized by episodes of balance and coordination problems that last …
Epidemiology of Cerebellar Diseases and Therapeutic Approaches.
Salman MS. Salman MS. Cerebellum. 2018 Feb;17(1):4-11. doi: 10.1007/s12311-017-0885-2. Cerebellum. 2018. PMID: 28940047 Review.
Recent global epidemiological studies on ataxia reported an estimated overall prevalence rate of 26/100,000 in children, a prevalence rate of dominant hereditary cerebellar ataxia of 2.7/100,000, and a prevalence rate of recessive hereditary cerebellar ataxia of 3.3/100,00 …
Recent global epidemiological studies on ataxia reported an estimated overall prevalence rate of 26/100,000 in children, a prevalence rate o …
Aminopyridines and Acetyl-DL-leucine: New Therapies in Cerebellar Disorders.
Kalla R, Strupp M. Kalla R, et al. Curr Neuropharmacol. 2019;17(1):7-13. doi: 10.2174/1570159X16666180905093535. Curr Neuropharmacol. 2019. PMID: 30182858 Free PMC article. Review.
As a current key-therapy for the treatment of downbeat nystagmus 4-aminopyridine (4-AP) is suggested for the treatment of downbeat nystagmus (5-10 mg Twice a day [TID]), a frequent type of persisting nystagmus, due to a compromise of the vestibulo-cerebellum. Studies with …
As a current key-therapy for the treatment of downbeat nystagmus 4-aminopyridine (4-AP) is suggested for the treatment of downbeat nystagmus …
The clinical and genetic heterogeneity of paroxysmal dyskinesias.
Gardiner AR, Jaffer F, Dale RC, Labrum R, Erro R, Meyer E, Xiromerisiou G, Stamelou M, Walker M, Kullmann D, Warner T, Jarman P, Hanna M, Kurian MA, Bhatia KP, Houlden H. Gardiner AR, et al. Brain. 2015 Dec;138(Pt 12):3567-80. doi: 10.1093/brain/awv310. Epub 2015 Nov 23. Brain. 2015. PMID: 26598494 Free PMC article. Review.
We analysed all three genes (the whole coding regions of SLC2A1 and PRRT2 and exons one and two of PNKD) in a series of 145 families with paroxysmal dyskinesias as well as in a series of 53 patients with familial episodic ataxia and hemiplegic migraine to investigat …
We analysed all three genes (the whole coding regions of SLC2A1 and PRRT2 and exons one and two of PNKD) in a series of 145 families with pa …
[Channelopathies in neurology].
Grippo J, Grippo T. Grippo J, et al. Rev Neurol. 2001 Oct 1-15;33(7):643-7. Rev Neurol. 2001. PMID: 11784953 Free article. Review. Spanish.
Cl and Na channels alterations produce myotonic diseases: Thomsen, Becker and paramyothonies, potassium sensible paralysis, fluctuant congenital myotonic, Andersen s syndrome. Channelopathies also produce various episodic ataxia type 1, type 2, spinoce …
Cl and Na channels alterations produce myotonic diseases: Thomsen, Becker and paramyothonies, potassium sensible paralysis, fluctuant congen …
Pharmacotherapy of vestibular disorders and nystagmus.
Strupp M, Kremmyda O, Brandt T. Strupp M, et al. Semin Neurol. 2013 Jul;33(3):286-96. doi: 10.1055/s-0033-1354594. Epub 2013 Sep 21. Semin Neurol. 2013. PMID: 24057832 Review.
There are basically seven groups of drugs that can be used (the "7 As"): antiemetics; anti-inflammatory, anti-Meniere's, and antimigraine medications; antidepressants, anticonvulsants, and aminopyridines. ...The use of aminopyridines is a well-established therapeutic princ …
There are basically seven groups of drugs that can be used (the "7 As"): antiemetics; anti-inflammatory, anti-Meniere's, and antimigr …
Pharmacotherapy of vestibular and ocular motor disorders, including nystagmus.
Strupp M, Thurtell MJ, Shaikh AG, Brandt T, Zee DS, Leigh RJ. Strupp M, et al. J Neurol. 2011 Jul;258(7):1207-22. doi: 10.1007/s00415-011-5999-8. Epub 2011 Apr 2. J Neurol. 2011. PMID: 21461686 Free PMC article. Review.
The prerequisites for successful pharmacotherapy of vertigo, dizziness, and abnormal eye movements are the "4 D's": correct diagnosis, correct drug, appropriate dosage, and sufficient duration. There are seven groups of drugs (the "7 A's") that can be used: antiemetics; an …
The prerequisites for successful pharmacotherapy of vertigo, dizziness, and abnormal eye movements are the "4 D's": correct diagnosis, corre …
Recent advances in the genetics of recurrent vertigo and vestibulopathy.
Jen JC. Jen JC. Curr Opin Neurol. 2008 Feb;21(1):3-7. doi: 10.1097/WCO.0b013e3282f41ca0. Curr Opin Neurol. 2008. PMID: 18180645 Review.
PURPOSE OF REVIEW: To focus on recent advances in the genetics of recurrent vertigo, with an overview on episodic ataxia, benign recurrent vertigo (mainly migraine-associated vertigo), bilateral vestibulopathy, and Meniere's disease. RECENT FINDINGS: Since the ident …
PURPOSE OF REVIEW: To focus on recent advances in the genetics of recurrent vertigo, with an overview on episodic ataxia, beni …
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