Results 51 to 60 of about 11,195 (218)

Neuroplasticity in an Adolescent with Corpus Callosum Agenesis Associated with Epilepsy

open access: yesRevista Finlay, 2021
Neural plasticity represents the brain's ability to recover and restructure itself, allowing it to recover from disorders or injuries and reduce the effects of structural alterations, whether congenital or acquired. The agenesis of the corpus callosum is
Dámaris González Vidal   +2 more
doaj  

Sex differences and other correlations of Human Corpus Callosum: A review

open access: yesNational Journal of Clinical Anatomy, 2017
There is a wide spectrum in the field of sex differences and other correlation in human corpus callosum. More recent literatures have raised doubts as to whether the anatomic size of the corpus is actually different.
D K Sharma
doaj   +1 more source

Clobazam versus corticosteroid for developmental and epileptic encephalopathy with spike–wave activation in sleep ((D)EE‐SWAS): Results of a multicenter observational study

open access: yesEpilepsia, EarlyView.
Abstract Objective Developmental and epileptic encephalopathy with spike–wave activation in sleep ((D)EE‐SWAS) is associated with acquired cognitive and behavioral deficits. This international multicenter study aimed to compare cognitive and safety outcomes following initial treatment with corticosteroid and clobazam in patients not eligible for the ...
Marleen M. L. van Arnhem   +18 more
wiley   +1 more source

Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network

open access: yesPaediatric and Perinatal Epidemiology, EarlyView.
ABSTRACT Background Surveillance of congenital anomaly prevalence over time can identify new teratogens. Anomalies with a genetic cause are excluded from the monitoring. Objectives We examined temporal changes in the proportion of genetic diagnoses among cases with a congenital anomaly.
Jorieke E. H. Bergman   +23 more
wiley   +1 more source

Agenesis and lipoma of corpus callosum: Case report Agenesia e lipoma de corpo caloso: relato de caso

open access: yesArquivos de Neuro-Psiquiatria, 1995
The agenesis and lipoma of the corpus callosum is a very rare association. We report the case of a 18-years old woman with rare epileptic seizures since the age of 6 years, normal neurological examination, as well as normal electroencephalogram.
Délrio Façanha Silva   +5 more
doaj   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim   +9 more
wiley   +1 more source

Cavernous Angioma of the Corpus Callosum Presenting with Acute Psychosis

open access: yesBehavioural Neurology, 2014
Psychiatric symptoms may occasionally be related to anatomic alterations of brain structures. Particularly, corpus callosum lesions seem to play a role in the change of patients’ behavior.
Giacomo Pavesi   +2 more
doaj   +1 more source

CRISPR‐Cas9‐Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype

open access: yesgenesis, Volume 64, Issue 1, February 2026.
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu   +10 more
wiley   +1 more source

Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL‐Related Disorders: A Cross‐Sectional Caregiver Survey Analysis

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 35-58, January 2026.
ABSTRACT Limited studies have been conducted on pubertal development in populations with pre‐existing medical conditions. More than 20‐fold increased risk of early puberty has been reported in neurodevelopmental disorders; however, this is a heterogeneous group.
Amanda Piring   +4 more
wiley   +1 more source

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