Results 71 to 80 of about 15,911 (210)

Development, specification, and diversity of callosal projection neurons [PDF]

, 2013
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., MacDonald, Jessica Linn, Macklis, Jeffrey Daniel   +2 more
core   +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

Epilepsia, 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, Linde J. Vijn, Guido Rubboli, Marianne Søndergaard Khinchi, Petia Dimova, Emilio Perucca, Valentina De Giorgis, Liisa Metsähonkala, Georgia Ramantani, Anna Jansen, Richard Chin, Lieven Lagae, Alexis Arzimanoglou, Wim M. Otte, Frans S. S. Leijten, Heleen C. van Teeseling, Kees P. J. Braun, Floor E. Jansen, Bart van den Munckhof   +18 more
wiley   +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]

, 2012
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., Gaudet, Rebecca, Hince, Pascale, Huot, Karine, Kurniawan, Nyoman, Laganiere, Janet, Mogil, Jeffrey S., Moldrich, Randal X., Rasheed, Sarah, Richards, Linda J., Ritchie, Jennifer, Rochefort, Daniel, Rouleau, Guy A., Salin-Cantegrel, Adele, Shekarabi, Masoud, Sotocinal, Susana G.   +15 more
core   +1 more source

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

Paediatric 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, Annie Perraud, Ester Garne, Ingeborg Barisic, David Tucker, Elisa Ballardini, Lea Bruneau, Clara Cavero‐Carbonell, Ianis Cousin, Miriam Gatt, Katya Kovacheva, Anna Latos‐Bielenska, Mary O'Mahony, Isabelle Monier, Isabelle Perthus, Riccardo Pertile, Anke Rissmann, Florence Rouget, Michelle Santoro, Joanna Sichitiu, Christine Verellen‐Dumoulin, Wladimir Wertelecki, Diana Wellesley, Joan K. Morris   +23 more
wiley   +1 more source

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

National 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

Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. [PDF]

, 2007
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, BERTINI E, BOUSLAM N, BRICE A., CHARLES P, CHOMILIER J, CONFAVREUX C, COUTINHO P, CRUZ VT, DENORA PS, DURR A, ELLEUCH N, FILLA, ALESSANDRO, FONTAINE B, GRID D, LEGUERN E, LOSSOS A, LOUREIRO, JL, MARTIN E, OUVRARD HERNANDEZ AM, RUBERG M, SANTORELLI FM, STEVANIN G, TAZIR M, TESSA A   +24 more
core  

Social and Behavioral Problems of Children with Agenesis of the Corpus Callosum

, 2007
Archival data from a survey of parent observations was used to determine the prevalence of social and behavioral problems in children with agenesis of the corpus callosum (ACC).
Andrews, Glena, Badaruddin, Denise, Bolte, Sven, Brown, Warren, Paul, Lynn, Schillmoeller, Gary, Schilmoeller, Kathryn   +6 more
core   +1 more source

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

American 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, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Neuroplasticity in an Adolescent with Corpus Callosum Agenesis Associated with Epilepsy

Revista 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, Osvaldo Ramón Aguilera Pacheco, Margarita Isabel Chávez Isla   +2 more
doaj  

Parental counselling and autopsy results: A retrospective diagnostic cohort study at a multidisciplinary fetal neurology clinic

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 441-452, March 2026.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70022 This original article is commented on by Scelsa on pages 311–312 of this issue. Abstract Aim To examine the accuracy of prenatal counselling at a multidisciplinary fetal neurology clinic (FNC) that led to termination of pregnancy (TOP), to improve the quality of future ...
Avi Shariv, Michal Gafner, Zvi Leibovitz, Letizia Schreiber, Dvora Kidron, Ayala Arad, Efrat Hadi, Stephanie Libzon, Liat Ben Sira, Maya Goldschmidt Manor, Dorit Lev, Tally Lerman‐Sagie, Liat Gindes   +12 more
wiley   +1 more source