Results 41 to 50 of about 15,684 (257)
UK Infantile Spasms Study: Effect of Time to Treatment and Age at Onset on Developmental Outcome
Pediatric Neurology Briefs, 2011 The effects of lead time to treatment (time from onset of spasms to start of treatment), age at onset of spasms, etiology, and treatment on developmental outcome at 4 years were investigated using multiple linear regression in 77 infants with spasms ...
J Gordon Millichap
doaj +1 more source
Dynamic imaging of coherent sources reveals different network connectivity underlying the generation and perpetuation of epileptic seizures [PDF]
, 2013 The concept of focal epilepsies includes a seizure origin in brain regions with hyper synchronous activity (epileptogenic zone and seizure onset zone) and a complex epileptic network of different brain areas involved in the generation, propagation, and ...
Anwar, Abdul Rauf +6 more
core +3 more sources
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +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 +2 more
core +2 more sources
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? [PDF]
, 2019 BACKGROUND: Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of ...
Cho SY +8 more
core +1 more source
Neonatal Seizures in Tuberous Sclerosis Complex: A Case Series
Annals of the Child Neurology Society, EarlyView.ABSTRACT Background Epilepsy affects up to 90% of patients with tuberous sclerosis complex (TSC); earlier seizure onset is associated with worse neurocognitive outcomes. The incidence of neonatal seizures in TSC is unknown, although in a recent multicenter trial 23% of infants with TSC were excluded prior to randomization because of pre‐existing ...
Kristina Jülich, Kristen Arredondo
wiley +1 more source
Pediatric Neurology Briefs, 1997 Two unrelated families with X-linked infantile spasm syndrome were studied genetically by two-point and multipoint linkage analyses at the University Hospital Gasthuisberg, and Center for Human Genetics, University of Leuven, and University of Antwerp ...
J Gordon Millichap
doaj +1 more source
Epileptic Disorders, EarlyView.Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini +6 more
wiley +1 more source
Neurology, 2018 > Her MRI paints an unnerving tale > > Honest truths announce themselves > > In black and white > > Ominous, for all to ...
openaire +3 more sources
Epilepsia OpenObjective Relapse of epileptic spasms after initial treatment of infantile epileptic spasms syndrome (IESS) is common. However, past studies of small cohorts have inconsistently linked relapse risk to etiology, treatment modality, and EEG features upon ...
Emmi Deckard +7 more
doaj +1 more source