Results 91 to 100 of about 3,613 (236)

Prevalence and incidence of infantile epileptic spasms syndrome in India: A systematic review and meta‐analysis

Epilepsia Open, EarlyView.
Abstract Objectives Infantile epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy of infantile onset. While epidemiological data from Western countries and global estimates are available, consolidated evidence on the burden of IESS in India remains limited.
Akanksha Singh, Parth Lal, Mohammed Safeer V.S., Atishay Jain, Priyanka Madaan, Jitendra Kumar Sahu, Dipika Bansal   +6 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

Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self‐limited infantile epilepsy by trios whole‐exome sequencing

Epilepsia Open, EarlyView.
Abstract Objective Infantile epileptic spasms syndrome (IESS) and self‐limited infantile epilepsy (SeLIE) are both genetically heterogeneous disorders during infancy with distinct prognoses. To better define the genetic spectrum of IESS, we performed a comparative genetic analysis using SeLIE cases as a reference group. Methods We performed whole‐exome
Yihong Sun, Ningning Chen, Congjie Chen, Weitian Lu, Qian Wan, Tingsong Li, Yupeng Cun   +6 more
wiley   +1 more source

Management practices for West syndrome in South Asia: A survey study and meta‐analysis

Epilepsia Open, 2020
Objectives Considering the dearth of literature on West syndrome (WS) from South Asian countries, this study aimed to evaluate the management practices in South Asia by an online survey and meta‐analysis.
Priyanka Madaan, Prem Chand, Kyaw Linn, Jithangi Wanigasinghe, Mimi Lhamu Mynak, Prakash Poudel, Raili Riikonen, Amit Kumar, Pooja Dhir, Sandeep Negi, Jitendra Kumar Sahu   +10 more
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

Managing Dystonia in Partington Syndrome

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Bilateral focal hand dystonia is an almost pathognomonic sign of Partington syndrome, frequently accompanied by intellectual disability and oromotor dyspraxia. However, a few studies have focused on the treatment of this focal dystonia, making patient management uncertain.
Emilie Pichon, Aurea Alioth, Sabina Catalano Chiuvé, André Zacharia, Marta Ruiz‐Lopez, David P. Breen, Florence Zangas‐Gehri, Florent Draye, Aurore Curie, Duncan Wilson, Victor S.C. Fung, Stephen Duma, Joël Fluss, Julien F. Bally   +13 more
wiley   +1 more source

ACTH in Infantile Spasms

Pediatric Neurology Briefs, 1990
The relationship between dose of ACTH and the initial effect and long-term prognosis was investigated in 41 children with infantile spasms at the Department of Pediatrics, Kyoto University, Kyoto, Japan.
J Gordon Millichap
doaj   +1 more source

The 50 years experience of adrenocorticotropic hormone (ACTH) use in West Syndrome: literatura review and UNIFESP protocol [PDF]

, 2008
INTRODUÇÃO: A eficácia do ACTH no tratamento da Síndrome de West (SW) é extensivamente debatida na literatura, o mesmo ocorrendo em relação às doses, efeitos colaterais e protocolos de utilização.
GARZON, Eliana, GOMES, Maria Durce Costa, SAKAMOTO, Américo C.   +2 more
core   +2 more sources

Genetic complexity in pediatric onset epilepsy‐movement disorder syndromes: Insights from a cohort of 97 subjects

Epilepsia, EarlyView.
Abstract Objective Conditions presenting with both epilepsy and movement disorders (EPIMDs) range from relatively benign cases to severe developmental encephalopathies. However, the full clinical and genetic spectrum still needs to be better defined.
Davide Caputo, Roberta Solazzi, Barbara Castellotti, Celeste Panteghini, Francesca Luisa Sciacca, Elisa Visani, Elena Freri, Francesca Ragona, Laura Canafoglia, Federica Zibordi, Giovanna Zorzi, Shari Gandelli, Cinzia Gellera, Silvana Franceschetti, Nardo Nardocci, Tiziana Granata   +15 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