Results 221 to 230 of about 74,884 (346)

Polymicrogyria in infants with symptomatic congenital cytomegalovirus at birth is associated with epilepsy: A retrospective, descriptive cohort study

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
In children with symptomatic congential CMV, those with polymicrogyria are at an increased risk of developing epilepsy. Abstract Aim To identify neonatal magnetic resonance imaging (MRI) features that predict the likelihood of children with congenital cytomegalovirus (cCMV) developing epilepsy, together with clinical features and a validated MRI ...
George Lawson   +7 more
wiley   +1 more source

Familial Progressive Sensorineural Deafness Is Mainly Due to the mtDNA A1555G Mutation and Is Enhanced by Treatment with Aminoglycosides [PDF]

open access: bronze, 1998
Xavier Estivill   +10 more
openalex   +1 more source

Pathogenic variants in chromatin‐related genes: Linking immune dysregulation to neuroregression and acute neuropsychiatric disorders

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Chromatin machinery influences how DNA is ‘wrapped’ around histones in the nucleosome of immune and brain cells. Abstract We report eight children with de novo pathogenic DNA variants in chromatin‐related genes: MORC2, CHD7, KANSL1, KMT2D, ZMYND11, HIST1HIE, EP300, and KMT2B.
Russell C. Dale   +14 more
wiley   +1 more source

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