Results 71 to 80 of about 9,861 (247)

West syndrome: long-term outcomes depending on etiology and treatment (literature review)

Русский журнал детской неврологии, 2019
West syndrome is a severe form of childhood epilepsy associated with drug-resistant seizures and intellectual disability. The disease  is characterized by specific seizures called infantile spasms, hypsarrhythmia on the electroencephalogram, and delayed ...
T. M. Prygunova
doaj   +1 more source

Short-term outcome of intravenous methylprednisolone pulse therapy versus oral prednisolone in patients with epileptic spasms

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2022
Background Infantile spasm (IS) is an age-specific epileptic disorder of early infancy that typically presents with epileptic spasms occurring in clusters.
Abdelsattar Abdullah Elsayeh, Mohammad Ali Saeed Hassan   +1 more
doaj   +1 more source

Lesions Associated With Autism Symptoms Map to a Cerebellar Brain Network in Tuberous Sclerosis Complex

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Autism spectrum disorder (ASD) affects 1 in 36 individuals in the United States and is characterized by impaired social communication and restrictive/repetitive behaviors. Individuals with tuberous sclerosis complex (TSC) have a high incidence of ASD (40%) and exhibit congenital brain lesions (tubers), offering a unique lesion‐based ...
Wendy Xiao Herman, Gillian N. Miller, Mustafa Sahin, Jurriaan M. Peters, Simon K. Warfield, Darcy A. Krueger, E. Martina Bebin, Hope Northrup, Joyce Y. Wu, Michael D. Fox, Alexander L. Cohen   +10 more
wiley   +1 more source

A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion [PDF]

, 2014
Background: Infantile spasms (IS) is a specific type of epileptic encephalopathy associated with severe developmental disabilities. Genetic factors are strongly implicated in IS, however, the exact genetic defects remain unknown in the majority of cases.
An, Yu, Du, Xiaonan, Guo, Xiaohong, Jiang, Yong-hui, Liu, Renchao, Qin, Yanrong, Sun, Daokan, Wang, Yi, Wu, Bailin, Yu, Lifei, Zhou, Shuizhen   +10 more
core   +1 more source

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Epileptic Disorders, EarlyView.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source

Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy. [PDF]

, 2019
Aminoacyl-tRNA synthetases (ARSs) function to transfer amino acids to cognate tRNA molecules, which are required for protein translation. To date, biallelic mutations in 31 ARS genes are known to cause recessive, early-onset severe multi-organ diseases ...
Accogli, Andrea, Ben-Omran, Tawfeg, Bernard, Geneviève, Chowdhury, Shimul, Crawford, John R, Dimmock, David, Friedman, Jennifer, Gleeson, Joseph G, Guerrero, Kether, Hildreth, Amber, Issa, Mahmoud Y, James, Kiely N, Kingsmore, Stephen F, Koehler, Alanna E, Lo, Wing-Sze, Mendes, Marisa I, Musaev, Damir, Nahas, Shareef, Omar, Tarek EI, Salomons, Gajja S, Smith, Desiree E, Stanley, Valentina, Tran, Luan T, Wang, Rengang, Wigby, Kristen, Wright, Meredith S, Xu, Zhiwen, Zaki, Maha S, Zhai, Liting   +28 more
core   +2 more sources

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach [PDF]

, 2015
The Aristaless-related homeobox (ARX) gene is implicated in intellectual disability with the most frequent pathogenic mutations leading to expansions of the first two polyalanine tracts. Here, we describe analysis of the ARX gene outlining the approaches
Aguiar, L., Amado, M., Calado, A., Catford, R., Dias, P., Fortuna, A., Friend, K, Howell, K., Jorge, P., Leventer, R., Marques, I., Mattiske, T., Mota, M., Pinheiro, C., Ryan, M., Sachdev, R., Santos, R., Shoubridge, C., Soares, C., Soares, G., Sousa, A., Sá, J.   +21 more
core   +3 more sources

The epilepsy phenotype of ST3GAL3‐related developmental and epileptic encephalopathy

Epilepsia Open, 2023
Objective ST3GAL3‐related developmental and epileptic encephalopathy (DEE‐15) is an autosomal recessive condition characterized by intellectual disability, language and motor impairments, behavioral difficulties, stereotypies, and epilepsy.
Robyn Whitney, Puneet Jain, Rajesh RamachandranNair, Kevin C. Jones, Hassan Kiani, Mark Tarnopolsky, Brandon Meaney   +6 more
doaj   +1 more source

Fifteen years of real‐world data on the use of vigabatrin in individuals with infantile epileptic spasms syndrome

Epilepsia, 2023
This study was undertaken to evaluate our treatment algorithm for infantile epileptic spasms syndrome (IESS) used between 2000 and 2018.
M. Kuchenbuch, Tommaso Lo Barco, N. Chemaly, C. Chiron, R. Nabbout   +4 more
semanticscholar   +1 more source

Weaning from ketogenic diet therapy in children with epilepsy: Insights from a retrospective study

Epilepsia, EarlyView.
Abstract Objective This study was undertaken to describe weaning practices following ketogenic diet therapy (KDT) in children with epilepsy and to identify clinical factors associated with seizure exacerbation or antiseizure medication adjustments during or after weaning from KDT.
Noémie Donnard, Blandine Dozières‐Puyravel, Katia Geraldes, Céline Perrot, Virginie Quéméner, Estelle Goujon, Pierre Truchy, Hala Nasser, François‐Xavier Mauvais, Marion Danse, Stéphane Auvin   +10 more
wiley   +1 more source