Search Results - "Vari MS"

Is cognitive profiling in NF1 still optional? A systematic review of current assessment practices.

Authors: Santangelo A Sardi A Bergonzini L et al.

Source: Frontiers in neurology [Front Neurol] 2026 Apr 30; Vol. 17, pp. 1794510. Date of Electronic Publication: 2026 Apr 30 (Print Publication: 2026).

Publication Type: Journal Article; Systematic Review

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

First demyelinating attack in children: A twelve year single center cohort.

Authors: Santagostino Barbone A Giacomini T Casabona S et al.

Source: Multiple sclerosis and related disorders [Mult Scler Relat Disord] 2026 Apr; Vol. 108, pp. 107026. Date of Electronic Publication: 2026 Jan 22.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier B. V Country of Publication: Netherlands NLM ID: 101580247 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-0356 (Electronic) Linking ISSN: 22110348 NLM ISO Abbreviation: Mult Scler Relat Disord Subsets: MEDLINE

Understanding PACS2 syndrome's pathomechanism by studying E209K and E211K mutations.

Authors: Zbikowski, Arkadiusz Kowalczyk, Tomasz Kasparek, Petr et al.

Source: Mammalian Genome. Jun2025, Vol. 36 Issue 2, p363-371. 9p.

Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case Report.

Authors: Perinelli MG Naboni C Balagura G et al.

Source: Neurology. Clinical practice [Neurol Clin Pract] 2024 Jun; Vol. 14 (3), pp. e200287. Date of Electronic Publication: 2024 Apr 19.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101577149 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2163-0402 (Print) Linking ISSN: 21630402 NLM ISO Abbreviation: Neurol Clin Pract Subsets: PubMed not MEDLINE

DHDDS-related disease; biallelic missense novel variant causing major severity with an early-onset epilepsy and hyperkinetic movement disorder.

Authors: Gazeteci Tekin, Hande Edem, Pınar

Source: International Journal of Neuroscience. Jun2025, Vol. 135 Issue 6, p726-730. 5p.

Subjects: Movement disorders, Neuronal ceroid-lipofuscinosis, Missense mutation, Developmental delay, People with epilepsy

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Authors: Chen S Abou-Khalil BW Afawi Z et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Sep 20. Date of Electronic Publication: 2024 Sep 20.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment.

Authors: Riva A Golda A Balagura G et al.

Source: Frontiers in neurology [Front Neurol] 2021 Dec 07; Vol. 12, pp. 753753. Date of Electronic Publication: 2021 Dec 07 (Print Publication: 2021).

Publication Type: Journal Article; Review

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Evaluation, Diagnosis, and Treatment of Concomitant Movement Disorders in Genetic Epilepsies.

Authors: Garris, Jordan Abbott, Megan Axeen, Erika et al.

Source: Epilepsy Currents. Dec2025, Vol. 25 Issue 6, p378-388. 11p.

Novel KCNQ2 missense variant expands the genotype spectrum of DEE7.

Authors: Wang, Chao Zhai, JinXia Chen, YongJun

Source: Neurological Sciences. Nov2024, Vol. 45 Issue 11, p5481-5488. 8p.

Subjects: Missense mutation, Genetic profile, Autism spectrum disorders, Genetic variation, Potassium channels

Pharmacologic Management of Sialorrhea in Neonatal and Pediatric Patients.

Authors: Bradford, Caitlyn V. Parman, Avery M. Johnson, Peter N. et al.

Source: Journal of Pediatric Pharmacology & Therapeutics. 2024, Vol. 29 Issue 1, p6-21. 16p.

Commentary: Consensus Guidelines on the Appropriate Use of Brand-Name and Generic Anti-Seizure Medication for the Management of Epilepsy in the Gulf Region.

Authors: Alsaadi, Taoufik Almadani, Abubaker Al-Hashel, Jasem et al.

Source: Neurology & Therapy. Aug2023, Vol. 12 Issue 4, p1015-1031. 17p.

Social and emotional impact of anterior drooling in school-age children and young people with neurodevelopmental disabilities.

Authors: Orriëns, Lynn B. van Aarle, Lieke G. J. M. Erasmus, Corrie E. et al.

Source: European Journal of Pediatrics. Oct2024, Vol. 183 Issue 10, p4491-4498. 8p.

A national-wide survey on clinical implementation of PGx testing into precision therapeutics for Chinese children: a long way before standard clinical practice.

Authors: Wu, Wen-wen Guo, Hong-Li Li, Yue et al.

Source: BMC Health Services Research. 9/18/2024, Vol. 24 Issue 1, p1-11. 11p.

The diagnostic and prognostic role of cerebrospinal fluid biomarkers in glucose transporter 1 deficiency: a systematic review.

Authors: Mastrangelo, Mario Manti, Filippo Ricciardi, Giacomina et al.

Source: European Journal of Pediatrics. Sep2024, Vol. 183 Issue 9, p3665-3678. 14p.

Use of cannabidiol in the treatment of drug-refractory epilepsy in children and young adults: A systematic review.

Authors: Vargas Chico, Samuel Fernando Melendez Diaz, Daniel Alejandro Contreras-Puentes, Neyder

Source: Journal of Neurosciences in Rural Practice. Apr-Jun2024, Vol. 15 Issue 2, p203-210. 8p.

Polyunsaturated fatty acid metabolism in the retinal pigment epithelium and its association with outer retinal disease.

Authors: Rayana NP Gogna N Krebs MP et al.

Source: Mammalian genome : official journal of the International Mammalian Genome Society [Mamm Genome] 2026 May 22; Vol. 37 (1). Date of Electronic Publication: 2026 May 22.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9100916 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1777 (Electronic) Linking ISSN: 09388990 NLM ISO Abbreviation: Mamm Genome Subsets: MEDLINE

Blueprint for clinical N-of-1 strategies with off-label precision treatments in monogenic epilepsies.

Authors: Defelippe, Victoria M. Brilstra, Eva H. Otte, Willem M. et al.

Source: Orphanet Journal of Rare Diseases. 6/16/2025, Vol. 20 Issue 1, p1-17. 17p.

Adult‐onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS.

Authors: Kim, Seondeuk Kim, Man Jin Son, Hyoshin et al.

Source: Annals of Clinical & Translational Neurology. Dec2021, Vol. 8 Issue 12, p2319-2326. 8p.

Electroencephalographic findings in ATRX syndrome: A new case series and review of literature.

Authors: Aiello S Mancardi MM Romano A et al.

Source: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society [Eur J Paediatr Neurol] 2022 Sep; Vol. 40, pp. 69-72. Date of Electronic Publication: 2022 Aug 18.

Publication Type: Case Reports; Journal Article; Review

Journal Info: Publisher: Saunders Country of Publication: England NLM ID: 9715169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2130 (Electronic) Linking ISSN: 10903798 NLM ISO Abbreviation: Eur J Paediatr Neurol Subsets: MEDLINE

Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.

Authors: Falsaperla R Vari MS Toldo I et al.

Corporate Authors: Falsaperla R Vari MS Toldo I et al.

Source: Metabolic brain disease [Metab Brain Dis] 2018 Feb; Vol. 33 (1), pp. 261-269. Date of Electronic Publication: 2017 Nov 25.

Publication Type: Journal Article; Observational Study

Journal Info: Publisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-7365 (Electronic) Linking ISSN: 08857490 NLM ISO Abbreviation: Metab Brain Dis Subsets: MEDLINE