Results 91 to 100 of about 8,633 (168)

A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1. [PDF]

Hum Genome Var, 2023
Watanabe K, Kubota K, Nakashima M, Saitsu H.   +3 more
europepmc   +1 more source

Stepwise administration of de novo ketogenic parenteral nutrition for refractory epilepsy during prolonged bowel rest following duodenal perforation

JPGN Reports, EarlyView.
Abstract Ketogenic diet is an established therapy for pediatric patients with intractable epilepsy. By shifting energy metabolism from glucose to fat, the diet increases the production of ketone bodies, which alters neuronal excitability and modulates neurotransmitter signaling, thereby raising the seizure threshold.
Zaid Sheikh, Sarika Sewak, Danielle N. Mein, Joyce H. Matsumoto, Alvin P. Chan   +4 more
wiley   +1 more source

Response to sequential treatment with prednisolone and vigabatrin in infantile spasms. [PDF]

J Paediatr Child Health, 2022
Dzau W, Cheng S, Snell P, Fahey M, Scheffer IE, Harvey AS, Howell KB.   +6 more
europepmc   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

EEG biomarkers for the diagnosis and treatment of infantile spasms. [PDF]

Front Neurol, 2022
Romero Milà B, Remakanthakurup Sindhu K, Mytinger JR, Shrey DW, Lopour BA.   +4 more
europepmc   +1 more source

Cancer pain: current practice and emerging targets

British Journal of Pharmacology, EarlyView.
Cancer pain (CP) arises from a complex interplay between the tumour and its microenvironment. Many patients experience a mixed pain phenotype that encompasses nociceptive, neuropathic and neuroinflammatory mechanisms, and vary across tumour type and disease stage. Despite decades of intensive research, the mainstay of cancer pain treatment is still non‐
Yi Ye, Marcin Chwistek, Zhiting Gong, Vanessa Uzonwanne, Xiaojie Shi, Arpad Szallasi   +5 more
wiley   +1 more source

Response to treatment and outcomes of infantile spasms in Down syndrome. [PDF]

Dev Med Child Neurol, 2022
Harvey S, Allen NM, King MD, Lynch B, Lynch SA, O'Regan M, O'Rourke D, Shahwan A, Webb D, Gorman KM, Irish Paediatric Neurology Group.   +10 more
europepmc   +1 more source

NMDA receptor subunit‐dependent analysis of radiprodil inhibition in neonatal male rat substantia nigra dopaminergic neurons

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Radiprodil is a GluN2B subunit selective NMDA receptor negative allosteric modulator which is currently under clinical investigation as a possible anti‐epileptic drug for paediatric use. Our goal was to investigate the inhibition of dopaminergic neuron NMDA responses by radiprodil.
Bangyuan Liu, Alasdair J. Gibb
wiley   +1 more source

Effectiveness of ACTH in Patients with Infantile Spasms. [PDF]

Brain Sci, 2022
Paprocka J, Malkiewicz J, Palazzo-Michalska V, Nowacka B, Kuźniak M, Kopyta I.   +5 more
europepmc   +1 more source

A New Case of Lethal Congenital Contracture Syndrome Type 3 With Hyperinsulinism and Optic Atrophy

Clinical Genetics, EarlyView.
PIP5K1C‐related lethal congenital contracture syndrome with hyperinsulinism and optic atrophy. ABSTRACT Lethal congenital contracture syndrome 3 (LCCS3, MIM #611369) is a rare autosomal recessive neuromuscular disorder caused by biallelic loss‐of‐function (LOF) variants in PIP5K1C, reported in only two families to date.
Tameemi Abdalla Moady, Hadar Hulin Ma'ayan, Michal Cohen, Karin Weiss   +3 more
wiley   +1 more source