Results 101 to 110 of about 4,530 (250)

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

Effect of stereo‐EEG versus subdural EEG on functional and seizure outcome in pediatric and adult epilepsy surgery: A 21‐year single‐center experience

Epileptic Disorders, Volume 27, Issue 4, Page 586-599, August 2025.
Abstract Objective (1) To compare use, benefits, and complications of stereo‐EEG (SEEG) and subdural EEG (SD) in presurgical epilepsy candidates. (2) To evaluate the effectiveness of both methods in delineation of the epileptogenic zone (EZ) and guiding tailored resective surgery. Methods We included patients with SEEG or SD evaluations in children and
Ahmed Gaballa, Christian G. Bien, Philip Grewe, Anne Hagemann, Thilo Kalbhenn, Tilman Polster, Friedrich G. Woermann, Thomas Cloppenborg   +7 more
wiley   +1 more source

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

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy [PDF]

, 2016
The gamma-aminobutyric acid type A receptor β3 gene (GABRB3) encodes the β3-subunit of the gamma-aminobutyric acid type A (GABAA ) receptor, which mediates inhibitory signalling within the central nervous system.
Ambegaonkar, G, Kurian, MA, McTague, A, Meyer, E, Ngoh, A, Papandreou, A, Scott, RH, Trump, N   +7 more
core   +1 more source

A companion to the preclinical common data elements for rodent models of pediatric acquired epilepsy: A report of the TASK3‐WG1B, Pediatric and Genetic Models Working Group of the ILAE/AES Joint Translational Task Force

Epilepsia Open, Volume 10, Issue S1, Page S53-S86, August 2025.
Abstract Epilepsy syndromes during the early years of life may be attributed to an acquired insult, such as hypoxic–ischemic injury, infection, status epilepticus, or brain trauma. These conditions are frequently modeled in experimental rodents to delineate mechanisms of epileptogenesis and investigate novel therapeutic strategies.
Anna‐Maria Katsarou, Hana Kubova, Stéphane Auvin, Massimo Mantegazza, Melissa Barker‐Haliski, Aristea S. Galanopoulou, Christopher A. Reid, Bridgette D. Semple   +7 more
wiley   +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  

Efficacy and tolerability of perampanel as add‐on therapy in Dravet syndrome: A prospective real‐world study

Epilepsia Open, Volume 10, Issue 4, Page 1043-1053, August 2025.
Abstract Objective To investigate the efficacy and tolerability of perampanel (PER) on Dravet syndrome in China by a prospective real‐world study. Methods We prospectively enrolled children with Dravet syndrome from the neurology clinic of Shenzhen Children's Hospital from September 2020 to October 2021.
Han Wang, Hong Chen, Xin Ding, Xueyan Cao, Jiahui Mai, Huafang Zou, Dongfang Zou, Yanwei Zhu, Jianxiang Liao, Dezhi Cao   +9 more
wiley   +1 more source

Neurological Disease Syndrome Caused by a STAG1 Gene Variant: A Case Report and Literature Review

International Journal of Developmental Neuroscience, Volume 85, Issue 5, August 2025.
We present a case of a child with a neurodevelopmental disorder associated with a mutation in the STAG1 gene, aiming to raise awareness of this type of disorder. ABSTRACT Background The cohesin complex is a multifunctional unit that plays a crucial role in DNA repair, replication, chromosome segregation, and gene expression.
Qi Zhang, Ying Ren, Song Su, Wandong Hu, Hongwei Zhang, Tong Zhang   +5 more
wiley   +1 more source

The acrocallosal syndrome: A case report and literature survey [PDF]

, 2009
Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey, Gonzales, Cesar, Hodgson, Brian   +2 more
core   +1 more source

Aetiopathogenesis of infantile epileptic spasms syndrome and mechanisms of action of adrenocorticotrophin hormone/corticosteroids in children: A scoping review

Developmental Medicine &Child Neurology, Volume 67, Issue 8, Page 1004-1025, August 2025.
Why does infantile epileptic spasms syndrome (IESS) occur with a variety of underlying conditions and why does it respond to adrenocorticotrophin hormone (ACTH)/corticosteroids? Our scoping review summarizes five hypotheses from the literature: gene/epigenetic regulation, stress/HPA axis activation, neuroinflammation/immune function, altered neuronal ...
Emily A. Innes, Velda X. Han, Shrujna Patel, Michelle A. Farrar, Deepak Gill, Shekeeb S. Mohammad, Russell C. Dale   +6 more
wiley   +1 more source