Results 41 to 50 of about 2,255 (147)
X-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report [PDF]
Iranian Journal of Neonatology, 2016 Background: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and ...
Alireza Jashni Motlagh +2 more
doaj
Egyptian Journal of Medical Human Genetics, 2014 Background: Baraitser–Winter syndrome (BRWS) is a malformation syndrome, characterized by facial dysmorphism, ocular colobomata, pachygyria, and intellectual defects.
Rabah M. Shawky +2 more
doaj +1 more source
Epileptic Disorders, Volume 27, Issue 5, Page 1026-1031, October 2025.Abstract Patients with TUBA1A pathogenic variants may present with complex brain malformation, intellectual disability, and epilepsy. The epilepsy phenotype is varied, ranging from mild to severe, with epileptic spasms and focal seizures being the most common seizure types.
Andy Cheuk‐Him Ng +1 more
wiley +1 more source
Pachygyria in a Saudi preteen female: A case report and review of literature [PDF]
, 2022 Oluniyi S Afolabi +1 more
openalex +1 more source
Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants
American Journal of Medical Genetics Part A, Volume 197, Issue 9, September 2025.ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti +12 more
wiley +1 more source
The FEBS Journal, Volume 292, Issue 18, Page 4898-4917, September 2025.Variants at position R196 in cytoskeletal β‐actin are the most common variants associated with Baraitser–Winter cerebrofrontofacial syndrome and result in craniofacial anomalies and neurodevelopmental disorders, most likely due to neuronal migration defects. This study explores the molecular mechanisms of p.R196 variants using purified proteins.
Johannes N. Greve, Dietmar J. Manstein
wiley +1 more source
The influence of biophysical parameters in a biomechanical model of cortical folding patterns
Scientific Reports, 2021 Abnormal cortical folding patterns, such as lissencephaly, pachygyria and polymicrogyria malformations, may be related to neurodevelopmental disorders.
Xiaoyu Wang +5 more
doaj +1 more source
Generation of Neural Organoids and Their Application in Disease Modeling and Regenerative Medicine
Advanced Science, Volume 12, Issue 29, August 7, 2025.Neural organoids provide a versatile platform for neurological research. Advances in organoid technology have partially achieved human neural tissue complexity in terms of tissue structure, cell diversity, and neural signaling, offering insights into neural disorders and regenerative strategies. Technology advances from biomaterials, bio‐manufacturing,
Ruiqi Huang +4 more
wiley +1 more source
Prenatal Diagnosis, Volume 45, Issue 8, Page 1074-1077, July 2025.Abstract Knobloch Syndrome‐1 is a rare autosomal recessive disorder typically diagnosed postnatally and characterized by occipital encephalocele, high myopia, and vitreoretinal degeneration. We describe a fetus with a constellation of prenatal neuroimaging findings, including occipital cephalocele, vermian dysplasia, bilateral polymicrogyria, and ...
Laurence Sophie Carmant +7 more
wiley +1 more source