Results 121 to 130 of about 1,156,270 (203)

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
core  

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
core  

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, Kasey E. Bedard, A. Delyla Ulm, Veronica Robbins‐Hood   +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, Debbie Miller, Emily Sewell, Laura Mantoan Ritter, Evangelia Theochari, Ioannis Stavropoulos, Robert Delamont, Mark P. Richardson, Joel S. Winston, Lina Nashef   +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, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Clinical, Behavioral and Neuroradiological Phenotype in an Italian Cohort of Patients With Xia Gibbs Syndrome: A Multicenter Cross‐Sectional Study and Systematic Literature Review

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, Stefania Della Vecchia, Patrizia Bergonzini, Elisa Caramaschi, Elisabetta Spezia, Claudia Parenti, Simona Filomena Madeo, Laura Lucaccioni, Cavalleri Francesca, Marisa Pugliese, Federico Raviglione, Clara Colonna, Olga Calabrese, Ilaria Stanghellini, Maria Carmen Marongiu, Enrico Biagioni, Anna Rita Ferrari, Roberta Battini, Lorenzo Iughetti   +18 more
wiley   +1 more source

Effectiveness and tolerability of fenfluramine in pediatric and adult patients with developmental and epileptic encephalopathies: A multicenter, retrospective, real‐world clinical‐practice study

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, Elena González‐Alguacil, Patricia Smeyers, Sara Hernández, Victor Soto‐Insuga, Alejandro Fernández‐Cabrera, Laura Olivié, Teresa de Santos, Beatriz Parejo, Lucas Iacampo, Belén Ortuño, Javier Aparicio, Montserrat Fuentes, Juan Rodriguez‐Uranga, Paula Martínez‐Agredano, José Carlos Estévez, Angel Aledo‐Serrano, Rocio Martin‐Alvarez, David Conejo, Belen Baena, Blanca Mercedes‐Álvarez, Yolanda López, Alba Sierra‐Marcos, Rocio Trincado‐Lamuño, Mouna Ennazeh, Jesús González de la Aleja, Julia Renau, Maria Dolores Castro‐Vilanova, Fátima Romero‐Aguilera, José M. Serratosa   +29 more
wiley   +1 more source

SUDEP and mortality in developmental and epileptic encephalopathies: A meta‐analysis of randomized clinical trials and extension studies

Epilepsia, Volume 67, Issue 9, Page 4631-4648, September 2026.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are associated with high premature mortality and increased risk of sudden unexpected death in epilepsy (SUDEP). However, epidemiological data remain limited, particularly for specific syndromes such as Dravet syndrome (DS), Lennox–Gastaut syndrome (LGS), and infantile epileptic ...
Pierludovico Moro, Maria Sole Borioni, Adolfo Mazzeo, Enrico Cocchi, Carlo Di Bonaventura, Emanuele Cerulli Irelli   +5 more
wiley   +1 more source

Lennox-Gastaut syndrome in a patient with biallelic TELO2 variants. [PDF]

Epileptic Disord
Odabassian M, Myers KA.
europepmc   +1 more source

Insights into ANKRD11‐related epilepsy from 163 people

Epilepsia, Volume 67, Issue 9, Page 4922-4938, September 2026.
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su, Jian Ma, Qi Zhang, Wandong Hu, Ying Ren, Wenchao Zhang, Hongwei Zhang   +6 more
wiley   +1 more source