نتائج البحث

"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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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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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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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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Post‐infectious cerebellar ataxia following COVID‐19 in a patient with epilepsy.

• Authors : Chattopadhyay, Sidhartha¹ (AUTHOR) ; Sengupta, Judhajit¹ (AUTHOR); Basu, Sagar² (AUTHOR)

• Source: Clinical & Experimental Neuroimmunology. Nov2022, Vol. 13 Issue 4, p323-325. 3p.

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Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia

• Authors : Guissart, Claire; Latypova, Xenia; Rollier, Paul

Subjects: Biological Sciences; Bioinformatics and Computational Biology; Biomedical and Clinical Sciences

• Source: American Journal of Human Genetics. 102(5)

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Epileptic seizure following IV tramadol in a patient with mental retardation and cerebellar ataxia.

• Authors : Yarkan Uysal H; Ministry of Health, Ankara Training and Research Hospital, II. Anesthesiology and Reanimation Clinic, Ankara, Turkey. ; Bilimgut B

Subjects: Analgesics, Opioid/Analgesics, Opioid/Analgesics, Opioid/*adverse effects ; Cerebellar Ataxia/Cerebellar Ataxia/Cerebellar Ataxia/*complications ; Epilepsy/Epilepsy/Epilepsy/*chemically induced

• Source: Pain medicine (Malden, Mass.) [Pain Med] 2011 May; Vol. 12 (5), pp. 833-6. Date of Electronic Publication: 2011 Apr 04.Publisher: published by Oxford University Press on behalf of the American Academy of Pain Medicine Country of Publication: England NLM ID: 100894201 Publication

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A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2).

• Authors : Mauri, Nico¹; Kleiter, Miriam²; Dietschi, Elisabeth¹

• Source: G3: Genes | Genomes | Genetics. Aug2017, Vol. 7 Issue 8, p2729-2737. 9p.

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Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy.

• Authors : Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Karaca E

Subjects: Calcium Channels/Calcium Channels/Calcium Channels/*genetics ; Cerebellar Diseases/Cerebellar Diseases/Cerebellar Diseases/*genetics ; Epilepsy/Epilepsy/Epilepsy/*genetics Infantile Epileptic-Dyskinetic Encephalopathy

• Source: Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2019 Aug; Vol. 6 (8), pp. 1395-1406. Date of Electronic Publication: 2019 Jul 11.Publisher: Wiley Periodicals, Inc on behalf of American Neurological Association Country of Publication: United States NLM ID: 101623278 Publication Model:

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Long-term follow-up of neurological manifestations in a boy with incontinentia pigmenti.

• Authors : Margari L; Child Neuropsychiatry Unit, Department of General Medicine, Neuroscience and Sensory Organs, 'Aldo Moro' University of Bari, Piazza Giulio Cesare 1, Bari, Italy. ; Lamanna AL

Subjects: Mosaicism*; Cerebellar Ataxia/Cerebellar Ataxia/Cerebellar Ataxia/*etiology ; Epilepsy/Epilepsy/Epilepsy/*etiology Incontinentia pigmenti, familial male-lethal type

• Source: European journal of pediatrics [Eur J Pediatr] 2013 Sep; Vol. 172 (9), pp. 1259-62. Date of Electronic Publication: 2013 May 08.Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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