Results 101 to 110 of about 15,320 (235)

Managing Dystonia in Partington Syndrome

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Bilateral focal hand dystonia is an almost pathognomonic sign of Partington syndrome, frequently accompanied by intellectual disability and oromotor dyspraxia. However, a few studies have focused on the treatment of this focal dystonia, making patient management uncertain.
Emilie Pichon, Aurea Alioth, Sabina Catalano Chiuvé, André Zacharia, Marta Ruiz‐Lopez, David P. Breen, Florence Zangas‐Gehri, Florent Draye, Aurore Curie, Duncan Wilson, Victor S.C. Fung, Stephen Duma, Joël Fluss, Julien F. Bally   +13 more
wiley   +1 more source

Prognosis of Infantile Spasms

Pediatric Neurology Briefs, 1993
The developmental, neurologic, and seizure outcome and prognostic factors of 57 cases of infantile spasms were evaluated in relation to etiology (cryptogenic 17 cases, symptomatic 40 cases) at the Hospital for Sick Children, Toronto, Canada.
J Gordon Millichap
doaj   +1 more source

Infantile spasms: hypothesis-driven therapy and pilot human infant experiments using corticotropin-releasing hormone receptor antagonists. [PDF]

, 1999
Background and rationaleInfantile spasms (IS) are an age-specific seizure disorder occurring in 1:2,000 infants and associated with mental retardation in approximately 90% of affected individuals. The costs of IS in terms of loss of lifetime productivity
Baram, TZ, Brunson, K, Haden, E, Mitchell, WG   +3 more
core  

mTOR pathway inhibition as a new therapeutic strategy in epilepsy and epileptogenesis. [PDF]

, 2016
Several preclinical and some clinical studies have revealed that the mammalian target of rapamycin (mTOR) signaling pathway is involved in both genetic and acquired epilepsy syndromes.
Citraro, R, Constanti, A, Leo, A, Russo, E, Sarro, G   +4 more
core   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Methysergide and Infantile Spasms

Pediatric Neurology Briefs, 1989
A trial of antiadrenergic and antiseretonergic drugs in the treatment of 24 newly diagnosed and previously untreated infantile spasm patients is reported from the Epilepsy Research Center, Section of Neurophysiology, Department of Neurology, Baylor ...
J Gordon Millichap
doaj   +1 more source

How do the many etiologies of West syndrome lead to excitability and seizures? The corticotropin releasing hormone excess hypothesis. [PDF]

, 2001
West syndrome (WS) is associated with diverse etiological factors. This fact has suggested that there must be a 'final common pathway' for these etiologies, which operates on the immature brain to result in WS only at the maturational state present ...
Baram, TZ, Brunson, KL, Eghbal-Ahmadi, M
core  

Incidence and phenotypes of childhood-onset genetic epilepsies:a prospective population-based national cohort [PDF]

, 2019
Epilepsy is common in early childhood. In this age group it is associated with high rates of therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number of genes, with wide ranging functions, are implicated in its aetiology,
Abdelnour, Ailsa McLellan, Alan Webb, Alice Jollands, Anagnostou, Anderson, Andreas Brunklaus, Angela Vincent, Appenzeller, Arsov, Barker, Baxter, Bayat, Bearden, Berg, Berg, Berg, Berkovic, Bethan Lang, Biervert, Boerma, Brunklaus, Brunklaus, Calum A Morrison, Capovilla, Caraballo, Ceulemans, Chiron, Christine Findlay, Coman, Coppola, Daniela T Pilz, de Lange, Devinsky, Devinsky, Devinsky, Devinsky, Di Giorgis, Ebrahimi-Fakhari, Elma Stephen, Eltze, Escayg, Fiest, French, Fukuoka, Gaily, Guerrini, Harkin, Hauser, Helbig, Heyne, Higurashi, Howell, Huang, Hully, Ishaq Abu-Arafeh, Jamie Andrew, Jamie Cruden, Jane MacDonnell, Jay Shetty, Jean McKnight, Johannesen, Joseph D Symonds, Kass, Kato, Kirsty Stewart, Krabbenborg, Kwan, Larsen, Lek, Lemke, Lesley Nairn, Liam Dorris, Lim, Lindy, Lotte, Louise A Diver, Margaret Wilson, Martin Kirkpatrick, Mary Callaghan, Mary O‘Regan, Meghan M Slean, Millichap, Milligan, Mullen, Mullen, Myers, Myers, Nellist, Ngugi, Olson, Palmer, Peng, Philip Brink, Pisano, Pong, Rosemary Grattan, Sameer M Zuberi, Sarah Gardiner, Sawyer, Scheffer, Shelagh Joss, Singh, Stewart MacLeod, Striano, Trump, Weckhuysen, Wilson, Wirrell, Wolff, Wu, Wynn, Zeng   +112 more
core   +4 more sources

The ketogenic diet alters microbiome‐metabolome profiles to improve West syndrome therapy

Pediatric Investigation, EarlyView.
The ketogenic diet alleviates West syndrome by reshaping gut microbiota (increasing Bacteroides, Parabacteroides, and reducing Escherichia and Bifidobacterium), and modulating metabolites—including anticonvulsant lipids (e.g., capric acid), suppressed harmful lipids (e.g., 2‐methylbutyroylcarnitine), and amino acids and analogs (e.g., 3‐sulfinoalanine)—
Gan Xie, Qian Zhou, Jianxiang Liao, Yuejie Zheng, Wenjian Wang, Kunling Shen   +5 more
wiley   +1 more source

ACTH treatment of infantile spasms: mechanisms of its effects in modulation of neuronal excitability. [PDF]

, 2002
The efficacy of ACTH, particularly in high doses, for rapid and complete elimination of infantile spasms (IS) has been demonstrated in prospective controlled studies. However, the mechanisms for this efficacy remain unknown.
Avishai-Eliner, S, Baram, TZ, Brunson, KL   +2 more
core   +1 more source