Results 41 to 50 of about 6,069 (199)
Recurrent Neurodevelopmental Disorder Associated With a Dominant‐Negative TOP2B H63Y Variant
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We describe a 7 year‐old boy with severe neurodevelopmental disorder, medically‐refractory epileptic encephalopathy, hyperkinetic movement disorder, hypotonia, cerebral and cerebellar atrophy and hypomyelination who was found to have a heterozygous de novo TOP2B NM_001330700.2:c.187C>T, p.(His63Tyr) variant.
Zong Yi Ha +6 more
wiley +1 more source
Genetic Profiling of Polymicrogyria in a South Indian Cohort
Annals of Indian Academy of NeurologyPolymicrogyria (PMG) represents a complex disorder involving malformation of the cortex. There have not been any comprehensive genetic studies of PMG from India.
Mary Iype +3 more
doaj +1 more source
Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa +3 more
wiley +1 more source
Callosal Agenesis and Interhemispheric Cysts
Pediatric Neurology Briefs, 2001 Imaging studies of 25 cases of agenesis of the corpus callosum with interhemispheric cyst were retrospectively reviewed at the University of California, San Francisco, and Harvard Medical School, Boston.
J Gordon Millichap
doaj +1 more source
Reflex seizures and epilepsy surgery: A network approach case‐based exploration
Epileptic Disorders, EarlyView.Abstract Context Reflex seizures (RS) are defined by their consistent provocation by specific stimuli, encompassing a broad range from elementary sensory inputs to complex cognitive tasks. While RS are often encountered in clinical practice, their surgical management remains sparsely reported and poorly systematized.
Olivier Aron +6 more
wiley +1 more source
The Turkish Journal of Pediatrics, 2018 Polymicrogyria is a disorder of neuronal migration characterized by excessive cortical folding and partially fused gyri separated by shallow sulci.
Tülay Öncü-Öner +9 more
doaj +1 more source
Pediatric new‐onset seizure‐like events: Yield of diagnostic work‐up
Epileptic Disorders, EarlyView.Abstract Objective To assess the diagnostic yield of ancillary investigations in children presenting with new‐onset seizure‐like events (SLEs) at a tertiary first seizure clinic (FSC). Methods We conducted a retrospective cohort study including 1213 children evaluated for new‐onset SLEs at a tertiary FSC.
Geertruida Slinger +8 more
wiley +1 more source
Severe presentation and complex brain malformations in an individual carrying a CCND2 variant
Molecular Genetics & Genomic Medicine, 2019 Background Megalencephaly‐polymicrogyria‐polydactyly‐hydrocephalus (MPPH) is a developmental brain disorder characterized by megalencephaly and bilateral perisylvian polymicrogyria due to defects in genes of the PI3K‐AKT pathway. Only a few patients with
Gerarda Cappuccio +4 more
doaj +1 more source
Developmental Language Disorder and Polymicrogyria
Pediatric Neurology Briefs, 2002 Neuroimaging studies were conducted in 15 children (11 boys), ages 4 to 14 years, with primary complaint of language delay, in a study at the Department of Neurology, University of Campinas, Brazil.
J Gordon Millichap
doaj +1 more source
Epilepsia Open, 2023 Fetal intracranial hemorrhage represents a rare event with an estimated prevalence of 1:10 000 pregnancies. We report a patient diagnosed prenatally with intracranial hemorrhage and ventriculomegaly carrying a novel, previously unreported, likely ...
Barbora Straka +10 more
doaj +1 more source