Results 81 to 90 of about 3,560 (234)
Brain damage following whooping cough vaccination : is it time to lay the myth to rest? [PDF]
, 1998 Whooping cough causes significant morbidity and mortality, especially in early infancy. Although an effective vaccine exists, vaccine uptake in Malta was previously disappointing due to the general public’s and the medical community’s doubts regarding ...
Busuttil, Ray, Grech, Victor E.
core
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 +10 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 +13 more
wiley +1 more source
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
Confirmation of infantile spasms resolution by prolonged outpatient EEGs
Epilepsia Open, 2021 Objective There is no consensus on the type or duration of the posttreatment EEG needed for assessing treatment response for infantile spasms (IS). We assessed whether outpatient electroencephalograms (EEGs) are sufficient to confirm infantile spasms (IS)
Christopher J. Yuskaitis +4 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 +7 more
core +1 more source
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 +15 more
wiley +1 more source
"Electro-clinical Syndromes" with onset in Paediatric Age. the highlights of the clinical-EEG, genetic and therapeutic advances [PDF]
, 2011 The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited.
Alberto Verrotti +7 more
core +2 more sources
Epilepsia, EarlyView.Abstract Objective Timely diagnosis and effective treatment of Lennox–Gastaut syndrome (LGS) improve prognosis and lower health care costs, but the transition from infantile epileptic spasms syndrome (IESS) to LGS is highly variable and insidious. Objective biomarkers are needed to monitor this progression and guide clinical decision‐making. Methods We
Blanca Romero Milà +11 more
wiley +1 more source
Limited efficacy of zonisamide in the treatment of refractory infantile spasms
Epilepsia Open, 2020 A series of relatively small studies collectively suggest that zonisamide may be effective in the treatment of infantile spasms. Using a large single‐center cohort of children with infantile spasms, we set out to evaluate the efficacy and safety of ...
Shaun A. Hussain +7 more
doaj +1 more source