Results 61 to 70 of about 11,607 (215)
Movement Disorders Clinical Practice, EarlyView.Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source
Characterization of the agenesis of the corpus callosum, through the presentation of a clinical case
, 2023 Agenesis of the corpus callosum (ACC) is an anomaly that consists of the partial or total absence, congenitally or due to a neuropathological condition, of this structure, due to alterations in development; thus being defined by its absence and not by ...
Morillo Cano , Julio Rodrigo +3 more
core +1 more source
A rare cause of generalized seizures: agenesis and Lipoma of the corpus Callosum
The Pan African Medical Journal, 2014 An 18 years old young patient with no history presented to the emergency department suffering from episodes of generalized seizures and atypical headache without fever, the onset of symptoms dated back to two months.
Ahmed Belkouch, Abdelilah Mouhsine
doaj +1 more source
Frontiers in Genetics, 2019 Agenesis of the corpus callosum (ACC) is a birth defect in which the corpus callosum is either partially or completely missing. With recent advances in prenatal ultrasound, detection of ACC in obstetric practices is becoming more common.
Ying Jiang +9 more
doaj +1 more source
Neuropsychiatric symptoms related to agenesis of the corpus callosum. A case report
European Psychiatry, 2023 Introduction We present the case of a 41-year-old male patient with multiple psychiatric diagnoses, he was diagnosed with agenesis of the corpus callosum, which explains his clinical presentation.
A. Izquierdo De La Puente +4 more
doaj +1 more source
Clinical Endocrinology, EarlyView.ABSTRACT Introduction The accuracy and safety of cortisol‐stimulating tests (CSTs) for assessing hypothalamic–pituitary–adrenal (HPA) axis integrity, including the diagnosis of central adrenal insufficiency (CAI), in children remain uncertain. Although these tests can simultaneously evaluate cortisol and growth hormone secretion, the present study ...
Mariana Peduti Halah +6 more
wiley +1 more source
Children, 2022 Trisomy 8 mosaicism syndrome (T8MS) or “Warkany’s syndrome 2” is a rare chromosomal disorder characterized by three copies of chromosome 8 in some cells of the body.
Carmela Settimo +8 more
doaj +1 more source
USP34 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes
Clinical Genetics, EarlyView.Heterozygous loss‐of‐function variants in USP34 cause a novel neurodevelopmental disorder characterized by global developmental delay, speech impairment, autism, hypotonia, craniofacial dysmorphism, and distal limb anomalies. Disrupted Wnt/β‐catenin signaling via reduced Axin stabilization refines gene‐specific contributions within 2p15p16.1 ...
Helena Wigoda +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken +4 more
wiley +1 more source
Early Myelination Supports the Establishment of Consistent Handedness
Glia, Volume 74, Issue 7, July 2026.Early compact myelin is essential for the establishment but not the maintenance of consistent paw preference in mice. Congenital myelin absence reduces lateralization and creates a leftward bias, underscoring a developmental role in shaping brain asymmetries. ABSTRACT Lateralization of brain functions, such as handedness, is thought to enhance cortical
Sharlen Moore +7 more
wiley +1 more source