Results 141 to 150 of about 18,447 (220)

Epilepsies and Mirror Movements: An Underrecognized Association? [PDF]

J Clin Med
Nardone R, Trinka E.
europepmc   +1 more source

Endogenous Repair in Vanishing White Matter

Annals of Neurology, EarlyView.
Objective Vanishing white matter is a leukodystrophy with remarkable regional variation in disease severity. The cerebral and cerebellar white matter chronically degenerates, while stress‐induced episodes of rapid neurological deterioration coincide with the appearance of acute focal lesions in the deep gray structures and brainstem.
Bonnie C. Plug, Jodie H.K. Man, Marjolein Breur, Erik Nutma, Menno D. Stellingwerff, Truus E.M. Abbink, Marianna Bugiani, Marjo S. van der Knaap   +7 more
wiley   +1 more source

Phenotypic heterogeneity in familial epilepsies is influenced by polygenic risk for generalized and focal epilepsies. [PDF]

Epilepsia
Ellis CA, Ottman R, Epstein MP, Epi4K Consortium, Berkovic SF, Oliver KL.   +5 more
europepmc   +1 more source

Late Pregnancy Antiseizure Medication Exposure and Offspring Neurodevelopmental Risk: A Multi‐Child Cohort Study

Annals of Neurology, EarlyView.
Objective Antiseizure medication (ASM) use during pregnancy has increased over the past decade. However, evidence linking prenatal ASM exposure to neurodevelopmental disorders (NDDs) in offspring remains inconsistent. This study evaluated whether prenatal ASM exposure increases the risk of NDDs in children.
Odile Sheehy, Vanina Tchuente, Sherif Eltonsy, Steven Hawken, Padma Kaul, Mark Walker, Michael Pugliese, Roxana Dragan, Anamaria Savu, Lisiane Leal, Lucie Morin, Isabelle Malhamé, Raluca Pana, Anick Bérard   +13 more
wiley   +1 more source

Metabolic pathways and genes involved in treatable and non-treatable metabolic epilepsies. A comprehensive review and metabolic pathway analysis. [PDF]

Metab Brain Dis
Sesse A, Ladias P, Kostoulas C, Chatzistefanidis D, Georgiou I, Markoula S.   +5 more
europepmc   +1 more source

Real‐World Effectiveness of Switching to Oral or Infusion Versus Injectable Disease‐Modifying Therapy in Pediatric Multiple Sclerosis

Annals of Neurology, EarlyView.
Objective To assess real‐world effectiveness of switching disease‐modifying therapy (DMT) in pediatric multiple sclerosis (MS) and clinically isolated syndrome (CIS) initially treated with platform injectables on disease activity. Methods Of 2615 pediatric‐onset demyelinating disease patients at 12 clinics in the United States (US) Network of Pediatric
Aaron W. Abrams, Michael Waltz, T. Charles Casper, Gregory Aaen, Leslie A. Benson, Eva‐Chava M. Bernfeld, Leigh E. Charvet, Tanuja Chitnis, Carla Francisco, Mark P. Gorman, Jennifer S. Graves, Lauren Krupp, Kimberly O'Neill, Timothy E. Lotze, Soe Mar, Jayne Ness, Mary Rensel, Moses Rodriguez, John Rose, Alice Rutatangwa, Teri Schreiner, Nikita Shukla, Jan‐Mendelt Tillema, Bianca Weinstock‐Guttman, Yolanda Wheeler, Emmanuelle Waubant, Kristen M. Krysko, on behalf of the US Network of Pediatric MS Centers   +27 more
wiley   +1 more source

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

Epilepsy Curr
Garris J, Abbott M, Axeen E, Tochen L, Schreiber JM.   +4 more
europepmc   +1 more source

Anatomical Progression of Neuropathology in FTLD‐TDP Type C and Linkage to Annexin A11

Annals of Neurology, EarlyView.
Objective Frontotemporal lobar degenerations (FTLD)‐TDP type C (TDP‐C) is distinguished from other FTLD‐TDP subtypes by 3 unique features: (1) invariable onset in the anterior temporal lobe (ATL), (2) phosphorylated TDP‐43 (pTDP) neurites in cortex, and (3) colocalization of all pTDP deposits with annexin A11 (ANXA11).
Allegra Kawles, Caroline Nelson, Ivan Ayala, Elena Barbieri, Rudolph Castellani, Changiz Geula, Tamar Gefen, M. Marsel Mesulam   +7 more
wiley   +1 more source

Efficacy and safety of cannabidiol in a single-center pediatric drug-resistant epilepsy cohort: a retrospective study. [PDF]

Front Neurol
Butera A, Spoto G, Ceraolo G, Grella M, Giunta I, Albertini ML, Consoli C, Sferro C, Spanò M, Di Rosa G, Nicotera AG.   +10 more
europepmc   +1 more source

A Novel Transcriptional Slippage Mechanism Rescues Dystrophin Expression from a DMD Frameshift Variant

Annals of Neurology, EarlyView.
Pathogenic DMD variants usually follow the reading‐frame rule: out‐of‐frame changes cause Duchenne muscular dystrophy, whereas in‐frame ones produce Becker muscular dystrophy (BMD). We report a 23‐year‐old man with BMD‐like weakness, calf hypertrophy, elevated creatine kinase, and dilated cardiomyopathy.
Hiroya Naruse, Jun Mitsui, Akatsuki Kubota, So Okubo, Shuichiro Mitsuchi, Kensho Sumi, Shuichi Tanifuji, Shogo Komaki, Asuka Kitamura, Meiko Maeda, Daiki Yashita, Atsushi Sudo, Takashi Matsukawa, Masashi Hamada, Wataru Satake, Shoji Tsuji, Tatsushi Toda   +16 more
wiley   +1 more source