Results 121 to 130 of about 1,156,270 (203)
The Egyptian Journal of Neurology, Psychiatry and NeurosurgeryRefractory epileptic encephalopathies are defined as the severe, childhood-onset epilepsies associated with drug-resistant periodic seizures, neurodevelopmental disability, behavioral problems, and escalate the risk of sudden unexpected death in epilepsy
Muhammad Shahzaib Rasheed +8 more
doaj +1 more source
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Aim The aim of this project was to develop and implement a working definition and ethical framework for use of innovative medicine in contemporary Australian paediatric practice. Methods A mixed methods research methodology was undertaken using a Delphi process to establish a definition of innovative medicines in paediatric patients.
Sonya Stacey +5 more
wiley +1 more source
A Case of Lennox-Gastaut Syndrome due to 3-Methylcrotonyl CoA Carboxylase Deficiency
, 2004 3-Methylcrotonyl-CoA carboxylase(MCC) is a biotin-dependent enzyme involved in the leucine metabolism. We describe a patient with MCC deficiency who manifested with Reye syndrome-like illness with status epilepticus, metabolic acidosis, hypoglycemia ...
김흥동
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Treatment and Outcome in patients with Infantile spasms and Lennox Gastaut Syndrome [PDF]
, 2018 : AIM: To measure and assess the efficacy of ACTH and Vigabatrin in Infantile Spasm and their Unresponsiveness in Lennox-Gastaut Syndrome in Pakistani Population MATERIALS AND METHODS A study was conducted between year 2006 to 2016 evaluating 120 ...
Yaqoob, Nasir, Herekar, Arif
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Experimental Physiology, EarlyView.Abstract Infantile epileptic spasms syndrome (IESS) is characterized by epileptic spasms (ES) in infants and hypsarrhythmia on EEG. High‐frequency oscillations (HFOs), defined as oscillatory events at >80 Hz, reflect rapid spatiotemporal dynamics of cortical activity and might serve as novel biomarkers for epilepsy.
Shunta Yamaguchi +7 more
wiley +1 more source
Dravet Syndrome: A Primer for Behavior Analysts
Behavioral Interventions, Volume 41, Issue 4, November 2026.ABSTRACT Dravet syndrome (DS) is a rare and severe developmental and epileptic encephalopathy that is characterized by prolonged seizures beginning in the first year of life, followed by debilitating and complex features, including sleep disturbances, feeding problems, social‐emotional difficulties, speech deficits, and cognitive and motor impairments.
Isabel B. Hayes +3 more
wiley +1 more source
Cannabidiol in Adults With Lennox–Gastaut Syndrome: Real‐World Experience
European Journal of Neurology, Volume 33, Issue 10, October 2026.Cannabidiol showed sustained effectiveness and good tolerability in adults with LGS, with high retention over a median follow‐up of 41 months. Treatment was associated with improvement in seizure burden, increased seizure‐free days, fewer seizure‐related hospital admissions, and caregiver‐reported improvement in cognitive and behavioural functioning ...
Pyae Aung +9 more
wiley +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1951-1955, September 2026.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2067-2079, September 2026.ABSTRACT Heterozygous variants in the AHDC1 gene are associated with Xia Gibbs Syndrome (XGS), a genetic disorder with a highly variable phenotype. Cognitive impairment, motor delay, language delay, neonatal hypotonia, and sleep apnea are considered “cardinal” signs of the disease.
Giulia Cinelli +18 more
wiley +1 more source
Epilepsia, Volume 67, Issue 9, Page 4536-4550, September 2026.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by drug‐resistant seizures and developmental slowing/regression. We examined the efficacy and tolerability of fenfluramine (FFA) in pediatric and adult patients with Lennox–Gastaut syndrome (LGS), Dravet syndrome (DS), and other DEEs.
Vicente Villanueva +29 more
wiley +1 more source