A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James +4 more
core +3 more sources
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
Neuroplasticity in an Adolescent with Corpus Callosum Agenesis Associated with Epilepsy
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
Genetic Diagnoses Among Congenital Anomaly Cases in Europe: Data From the EUROCAT Network
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
Sex differences and other correlations of Human Corpus Callosum: A review
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
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. [PDF]
Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected families. We analyzed
AZZEDINE H +24 more
core
Development, specification, and diversity of callosal projection neurons [PDF]
Callosal projection neurons (CPN) are a diverse population of neocortical projection neurons that connect the two hemispheres of the cerebral cortex via the corpus callosum.
Fame, Ryann M. +2 more
core +1 more source
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
Hemi-ESES associated with agenesis of the corpus callosum and normal cognition. [PDF]
Corpus callosum plays the important role in bilateral synchronous expression of focal discharges of ESES. Sparing dominant hemisphere form continuous spike and slow waves during sleep accounts for normal cognitive scores. Early detection and treatment of
Asadi-Pooya, Ali Akbar +4 more
core +1 more source
Loss of neuronal potassium/chloride cotransporter 3 (KCC3) is responsible for the degenerative phenotype in a conditional mouse model of hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum [PDF]
Disruption of the potassium/chloride cotransporter 3 (KCC3), encoded by the SLC12A6 gene, causes hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (HMSN/ACC), a neurodevelopmental and neurodegenerative disorder ...
Dion, Patrick A. +15 more
core +1 more source

