Artículos por temáticas

Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia

Sartorelli J, Pomponi MG, Garone G, Vasco G, Cumbo F, Colona VL, D'Amico A, Bertini E, Nicita F.

Brain Sci. 2025 Feb 4;15(2):156. doi: 10.3390/brainsci15020156.

Clinical efficacy of low-dose Perampanel correlates with neurophysiological changes in familial adult myoclonus epilepsy 2

Coppola A, Cuccurullo C, Senerchia G, Rubino M, Veneziano L, Brancati F, Baratto L, Iuzzolino VV, Bilo L, Striano P, Dubbioso R.

Epilepsia Open. 2025 Feb;10(1):321-328. doi: 10.1002/epi4.13100. Epub 2024 Nov 12.

Movement Disorders after Dengue Virus Infection: A Scoping Review

Rosca EC, Garg D, Perez-Lloret S, Mohamed Ibrahim N, Phokaewvarangkul O, Sringean J, Holla V, Yadav R, Desai S, Pal PK.

Mov Disord. 2025 Feb 8. doi: 10.1002/mds.30142. Online ahead of print.

Alice in Wonderland Syndrome: Localising insights from right visual cortex stroke complicated by epilepsia partialis continua

Mbizvo GK, Bharambe V, Hywel B, Biswas S, Larner AJ.

Epilepsy Behav Rep. 2025 Jan 29;29:100745. doi: 10.1016/j.ebr.2025.100745. eCollection 2025 Mar.

Insufficient effect of deep brain stimulation in a patient with KCNN2-associated myoclonus-dystonia

Pauly MG, Thomsen M, Tadic V, Busch H, Depienne C, Lohmann K, Klein C, Brüggemann N.

Parkinsonism Relat Disord. 2025 Feb;131:107260. doi: 10.1016/j.parkreldis.2025.107260. Epub 2025 Jan 2.

[How to use clinical neurophysiology in functional neurological disorders (FND)?]

Ugawa Y.

Rinsho Shinkeigaku. 2025 Jan 29;65(1):1-7. doi: 10.5692/clinicalneurol.cn-002050. Epub 2024 Dec 21.

Myoclonic status epilepticus with dystonia-like symptoms in patients with dementia: Report of two cases

Rossi RV, Melis R, Murdeu N, Lizzos S, Piras ML, Racis L, Serusi S, Saddi MV.

Epilepsy Behav Rep. 2025 Feb 4;29:100750. doi: 10.1016/j.ebr.2025.100750. eCollection 2025 Mar.

Myoclonic reflex and non-reflex seizures in a female child with Coffin-Lowry syndrome: Clinical vignette

Pantani A, Rizzi S, Spagnoli C, Cesaroni CA, Cavalli A, Caraffi SG, Peruzzi A, Peluso F, Russo R, Scala I, Zuntini R, Garavelli L, Frattini D, Fusco C.

Epileptic Disord. 2025 Jan 29. doi: 10.1002/epd2.20335. Online ahead of print.

CLN6-related continuum phenotype caused by aberrant splicing

Invernizzi F, Castellotti B, Reale C, Panteghini C, Colangelo I, Solazzi R, Ragona F, Giordano L, Galli J, Rossi Sebastiano D, Marucci G, Cuccarini V, Didato G, Gellera C, Garavaglia B, Granata T, Can

Epilepsia Open. 2025 Feb;10(1):348-354. doi: 10.1002/epi4.13119. Epub 2024 Dec 24.

Miglustat as Disease-Modifying Therapy in a Patient with SCARB2-Related Action Myoclonus Renal Failure

Colucci F, Dardis A, Pavan E, Scarpa M, Gozzi A, Antenucci P, Farnè M, Neri M, Ferlini A, Tugnoli V, Sechi A, Sensi M.

Mov Disord Clin Pract. 2025 Feb;12(2):231-235. doi: 10.1002/mdc3.14273. Epub 2024 Nov 8.

A Novel Myoclonus-Ataxic Presentation of Chronic Lead Toxicity

Holla VV, Sharma P, Kamble N, Yadav R, Pal PK.

Mov Disord Clin Pract. 2025 Feb 27. doi: 10.1002/mdc3.70024. Online ahead of print.

Palatal tremor: a literature review and case report

Shivji S, Patel S, Maharaj K.

Neurol Sci. 2025 Feb 7. doi: 10.1007/s10072-025-08043-8. Online ahead of print.

Effect of intermittent theta burst stimulation combined with acoustic startle priming motor training on upper limb motor function and neural plasticity in stroke individuals: study protocol for a randomised controlled proof-of-concept trial

Chen Y, Xia N, Li J, Liang W, Yin Y, Zhai L, Wang M, Wang Q, Zhang J.

BMJ Open. 2025 Feb 2;15(1):e090049. doi: 10.1136/bmjopen-2024-090049.

CAPRIN1 Pro512Leu Variant Causes Childhood Dementia, Myoclonus-Ataxia, and Sensorimotor Neuropathy

Bove R, Torella A, Novelli M, Ricciardi G, Pollini L, Masuelli L, Bei R, Zanobio M, Pisani F, Nigro V, Leuzzi V, Galosi S.

Mov Disord Clin Pract. 2025 Jan 29. doi: 10.1002/mdc3.14347. Online ahead of print.

Comparing statistical learning methods for complex trait prediction from gene expression

Klimkowski Arango N, Morgante F.

PLoS One. 2025 Feb 11;20(2):e0317516. doi: 10.1371/journal.pone.0317516. eCollection 2025.