Results 41 to 50 of about 16,104 (221)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
Etiology of Agenesis of Corpus Callosum
Pediatric Neurology Briefs, 2000 Agenesis of the corpus callosum was found in 7 of 135 children (aged 3 months to 15 years) with structural cerebral defects on MRI.
J Gordon Millichap
doaj +1 more source
Variability of forebrain commissures in callosal agenesis: a prenatal magnetic resonance imaging study [PDF]
, 2016 Introduzione e Scopo dello Studio L’agenesia completa del corpo calloso (ACC) anche quando isolata può essere espressione di eterogeneità anatomica. Lo scopo dello studio è descrivere la variabilità delle altre strutture commissurali in un’ ampia corte
Nanni, Michela <1976>
core +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Epileptic Disorders, EarlyView.Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley +1 more source
Complete agenesis of the corpus callosum in paranoid schizophrenia—a case report
Clinical Case Reports, 2021 Corpus callosum agenesis is a rare condition and is sometimes associated with schizophrenia. The co‐existence of these two conditions adds value to the neurodevelopmental theory of schizophrenia.
Hari Neupane +2 more
doaj +1 more source
Characterization of an Inherited Neurologic Syndrome in Toyger Cats with Forebrain Commissural Malformations, Ventriculomegaly and Interhemispheric Cysts. [PDF]
, 2016 BackgroundIn children, frequent congenital malformations with concomitant agenesis of the corpus callosum are diagnosed by neuroimaging in association with other cerebral malformations, including interhemispheric cysts and ventriculomegaly.
Creighton, EK +5 more
core
A chemical genetic approach reveals distinct EphB signaling mechanisms during brain development. [PDF]
, 2012 EphB receptor tyrosine kinases control multiple steps in nervous system development. However, it remains unclear whether EphBs regulate these different developmental processes directly or indirectly.
Ataman, Bulent +12 more
core +1 more source
Epilepsia Open, EarlyView.Abstract Objective Focal epilepsy is characterized by progressive cortical thinning, particularly within limbic structures; however, whether this atrophy reflects acquired seizure‐induced damage or shared genetic predisposition remains unresolved. Methods We integrated genome‐wide association study (GWAS) summary statistics from the ILAE Consortium ...
Dingyuan Zhang +9 more
wiley +1 more source
Agenesis of the corpus callosum associated with hereditary syndromes
Анналы клинической и экспериментальной неврологии, 2017 : Agenesis of the corpus callosum (ACC) is detected in patients with cerebral dysgenesis associated with various hereditary syndromes. It is conventionally subdivided into total (the absence of commissural fibers) and partial (agenesis of the rostral and
Olga A. Milovanova +5 more
doaj +1 more source