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  • 1-10 of  1,144 results for ""CEREBELLAR ataxia""
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Academic Journal

Spontaneous and optogenetically induced cortical spreading depolarization in familial hemiplegic migraine type 1 mutant mice.

  • Authors : Loonen ICM; Department of Human Genetics, Leiden University Medical Center, Leiden 2333 RC, the Netherlands.; Voskuyl RA

Subjects: Migraine with Aura*/Migraine with Aura*/Migraine with Aura*/genetics ; Cortical Spreading Depression*/Cortical Spreading Depression*/Cortical Spreading Depression*/physiology ; Migraine Disorders*/Migraine Disorders*/Migraine Disorders*/genetics Hemiplegic migraine, familial type 1

  • Source: Neurobiology of disease [Neurobiol Dis] 2024 Mar; Vol. 192, pp. 106405. Date of Electronic Publication: 2024 Jan 09.Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".

  • Authors : Oshi MAM; Neurology Division, Gaafar Ibnauf Children's Emergency Hospital, Khartoum, Sudan.; Alfaifi J

Subjects: Cerebellar Ataxia* ; Epilepsy* ; Epilepsy, Generalized*

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2282. Date of Electronic Publication: 2023 Oct 06.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Early onset ataxia with comorbid myoclonus and epilepsy: A disease spectrum with shared molecular pathways and cortico-thalamo-cerebellar network involvement.

  • Authors : van Noort SAM; Department of Paediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands; Department of Pediatric Neurology, Beatrix Children's Hospital, University Medical Center Groningen, Groningen, the Netherlands

Subjects: Myoclonus*/Myoclonus*/Myoclonus*/complications ; Myoclonus*/Myoclonus*/Myoclonus*/epidemiology ; Myoclonus*/Myoclonus*/Myoclonus*/genetics

  • Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2023 Jul; Vol. 45, pp. 47-54. Date of ElectronicPublisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130

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Editorial & Opinion

Cerebellar Ataxia in Epilepsy Patient with Normal Serum Phenytoin Levels? Suspect Hyperammonemia.

  • Authors : Juneja A; Department of Neurology, Dr RML Hospital, Delhi, India.; Anand KS

Subjects: Cerebellar Ataxia*/Cerebellar Ataxia*/Cerebellar Ataxia*/chemically induced ; Epilepsy*/Epilepsy*/Epilepsy*/drug therapy ; Hyperammonemia*/Hyperammonemia*/Hyperammonemia*/chemically induced

  • Source: Neurology India [Neurol India] 2021 Nov-Dec; Vol. 69 (6), pp. 1869.Publisher: Medknow Publications Country of Publication: India NLM ID: 0042005 Publication Model: Print Cited Medium: Internet ISSN: 1998-4022

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Academic Journal

Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.

  • Authors : Stendel C; Friedrich Baur Institute at the Department of Neurology, University Hospital, Ludwig-Maximilians-University Munich, 80336 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.

Subjects: Loss of Function Mutation*; Calcium Channels/Calcium Channels/Calcium Channels/*genetics ; Cerebellar Ataxia/Cerebellar Ataxia/Cerebellar Ataxia/*genetics

  • Source: International journal of molecular sciences [Int J Mol Sci] 2020 May 27; Vol. 21 (11). Date of Electronic Publication: 2020 May 27.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Report

NUS1 and Epilepsy-myoclonus-ataxia Syndrome: An Under-recognized Entity?

  • Authors : Riboldi GM; The Marlene and Paolo Fresco Institute for Parkinson's and Movement Disorders, Department of Neurology, NYU Langone Health, New York, NY, USA.; Monfrini E

Subjects: Cerebellar Ataxia*/Cerebellar Ataxia*/Cerebellar Ataxia*/genetics ; Epilepsies, Myoclonic* ; Epilepsy*/Epilepsy*/Epilepsy*/complications

  • Source: Tremor and other hyperkinetic movements (New York, N.Y.) [Tremor Other Hyperkinet Mov (N Y)] 2022 Jun 15; Vol. 12, pp. 21. Date of Electronic Publication: 2022 Jun 15 (Print Publisher: Ubiquity Press Country of Publication: England NLM ID: 101569493 Publication Model: eCollection Cited Medium: Internet ISSN: 2160-8288

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Editorial & Opinion

Progressive myoclonus without epilepsy due to a NUS1 frameshift insertion: Dyssynergia cerebellaris myoclonica revisited.

  • Authors : Monfrini E; The Marlene and Paolo Fresco Institute for Parkinson's and Movement Disorders, Department of Neurology, NYU Langone Health, New York, NY, USA; Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.

Subjects: Cerebellar Ataxia* ; Epilepsy* ; Myoclonic Cerebellar Dyssynergia*

  • Source: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2022 May; Vol. 98, pp. 53-55. Date of Electronic Publication: 2022 Apr 20.Publisher: Elsevier Science Country of Publication: England NLM ID: 9513583 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

A Novel KCNA2 Variant in a Patient with Non-Progressive Congenital Ataxia and Epilepsy: Functional Characterization and Sensitivity to 4-Aminopyridine.

  • Authors : Imbrici P; Department of Pharmacy-Drug Sciences, University of Bari 'Aldo Moro', 70125 Bari, Italy.; Conte E

Subjects: 4-Aminopyridine/4-Aminopyridine/4-Aminopyridine/*therapeutic use ; Cerebellar Ataxia/Cerebellar Ataxia/Cerebellar Ataxia/*congenital ; Cerebellar Ataxia/Cerebellar Ataxia/Cerebellar Ataxia/*genetics

  • Source: International journal of molecular sciences [Int J Mol Sci] 2021 Sep 14; Vol. 22 (18). Date of Electronic Publication: 2021 Sep 14.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Epilepsy and episodic ataxia type 2: family study and review of the literature.

  • Authors : Verriello L; Neurology Unit, Department of Neurosciences, Santa Maria della Misericordia University Hospital, ASUFC, Piazzale Santa Maria della Misericordia 15, 33100, Udine, Italy. .; Pauletto G

Subjects: Cerebellar Ataxia* ; Epilepsy*/Epilepsy*/Epilepsy*/genetics ; Nystagmus, Pathologic*Episodic Ataxia, Type 2

  • Source: Journal of neurology [J Neurol] 2021 Nov; Vol. 268 (11), pp. 4296-4302. Date of Electronic Publication: 2021 May 13.Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Editorial & Opinion

Response to pyridoxine in CACNA1A epilepsy-ataxia does not imply a causal effect.

  • Authors : Pal DK; Department of Paediatric Neurology, Evelina London Children's Hospital, London, United Kingdom; Department of Basic & Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, United Kingdom

Subjects: Cerebellar Ataxia* ; Epilepsy*/Epilepsy*/Epilepsy*/drug therapy ; Epilepsy*/Epilepsy*/Epilepsy*/genetics

  • Source: Seizure [Seizure] 2021 Oct; Vol. 91, pp. 196-197. Date of Electronic Publication: 2021 Jun 29.Publisher: Elsevier Country of Publication: England NLM ID: 9306979 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2688

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  • 1-10 of  1,144 results for ""CEREBELLAR ataxia""