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Page 1
Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
Hassan A. Hassan A. Tremor Other Hyperkinet Mov (N Y). 2023 Mar 28;13:9. doi: 10.5334/tohm.747. eCollection 2023. Tremor Other Hyperkinet Mov (N Y). 2023. PMID: 37008993 Free PMC article. Review.
BACKGROUND: Episodic ataxia (EA), characterized by recurrent attacks of cerebellar dysfunction, is the manifestation of a group of rare autosomal dominant inherited disorders. ...METHODS: A systematic literature review was performed in October 2022 for 'episodic …
BACKGROUND: Episodic ataxia (EA), characterized by recurrent attacks of cerebellar dysfunction, is the manifestation of a grou …
Kv1.1 Channelopathies: Pathophysiological Mechanisms and Therapeutic Approaches.
D'Adamo MC, Liantonio A, Rolland JF, Pessia M, Imbrici P. D'Adamo MC, et al. Int J Mol Sci. 2020 Apr 22;21(8):2935. doi: 10.3390/ijms21082935. Int J Mol Sci. 2020. PMID: 32331416 Free PMC article. Review.
Kv1.1 belongs to the Shaker subfamily of voltage-gated potassium channels and acts as a critical regulator of neuronal excitability in the central and peripheral nervous systems. KCNA1 is the only gene that has been associated with episodic ataxia type 1 (EA1 …
Kv1.1 belongs to the Shaker subfamily of voltage-gated potassium channels and acts as a critical regulator of neuronal excitability in the c …
Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity.
Paulhus K, Ammerman L, Glasscock E. Paulhus K, et al. Int J Mol Sci. 2020 Apr 17;21(8):2802. doi: 10.3390/ijms21082802. Int J Mol Sci. 2020. PMID: 32316562 Free PMC article. Review.
KCNA1 mutations are primarily associated with a rare neurological movement disorder known as episodic ataxia type 1 (EA1). However, some patients have EA1 in combination with epilepsy, whereas others have epilepsy alone. ...In this review, literature database …
KCNA1 mutations are primarily associated with a rare neurological movement disorder known as episodic ataxia type 1 (EA …
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 …
[Limbic encephalitis--evolving concepts].
Serratrice G, Pellissier JF, Serratrice J, De Paula A. Serratrice G, et al. Bull Acad Natl Med. 2008 Nov;192(8):1531-41; discussion 1541-2. Bull Acad Natl Med. 2008. PMID: 19445370 Review. French.
Mutations of the genes encoding the Kv11 and Kv12 subunits are responsible for several Shaker syndromes, including neuromyotonia, Morvan's disease, type I episodic ataxia, and limbic encephalitis with hyponatremia. ...In patients without detectable antibodies …
Mutations of the genes encoding the Kv11 and Kv12 subunits are responsible for several Shaker syndromes, including neuromyotonia, Morvan's d …
Distinctive role of KV1.1 subunit in the biology and functions of low threshold K(+) channels with implications for neurological disease.
Ovsepian SV, LeBerre M, Steuber V, O'Leary VB, Leibold C, Oliver Dolly J. Ovsepian SV, et al. Pharmacol Ther. 2016 Mar;159:93-101. doi: 10.1016/j.pharmthera.2016.01.005. Epub 2016 Jan 26. Pharmacol Ther. 2016. PMID: 26825872 Review.
The diversity of pore-forming subunits of KV1 channels (KV1.1-KV1.8) affords their physiological versatility and predicts a range of functional impairments resulting from genetic aberrations. ...Herein, we critically evaluate the molecular and biophysical characteristics o …
The diversity of pore-forming subunits of KV1 channels (KV1.1-KV1.8) affords their physiological versatility and predicts a range of …
Wolff Award 1997. Involvement of a Ca2+ channel gene in familial hemiplegic migraine and migraine with and without aura. Dutch Migraine Genetics Research Group.
Ophoff RA, Terwindt GM, Vergouwe MN, Frants RR, Ferrari MD. Ophoff RA, et al. Headache. 1997 Sep;37(8):479-85. doi: 10.1046/j.1526-4610.1997.3708479.x. Headache. 1997. PMID: 9329229 Review.
One of the mutations has occurred on two different haplotypes in unrelated familial hemiplegic migraine families. Moreover, in episodic ataxia type 2, we found two mutations disrupting the reading frame. Thus, familial hemiplegic migraine and episodic …
One of the mutations has occurred on two different haplotypes in unrelated familial hemiplegic migraine families. Moreover, in episodic …
[P/Q-type voltage-dependent calcium channels in neurological disease].
Gazulla J, Tintore M. Gazulla J, et al. Neurologia. 2007 Oct;22(8):511-6. Neurologia. 2007. PMID: 17573560 Review. Spanish.
The alpha1A subunit, encoded by the CACNA1A gene, is the pore-forming structure specific to the neuronal P/Q-type voltage-dependent calcium channels (P/QCC), present exclusively in neurons. ...METHODS: Congenital and acquired disturbances of the P/QCCs lay behind some neur …
The alpha1A subunit, encoded by the CACNA1A gene, is the pore-forming structure specific to the neuronal P/Q-type voltage-dependent c …