Results 41 to 50 of about 2,258 (187)

TUBA1A tubulinopathy mutants disrupt neuron morphogenesis and override XMAP215/Stu2 regulation of microtubule dynamics

eLife, 2022
Heterozygous, missense mutations in α- or β-tubulin genes are associated with a wide range of human brain malformations, known as tubulinopathies. We seek to understand whether a mutation’s impact at the molecular and cellular levels scale with the ...
Katelyn J Hoff, Jayne E Aiken, Mark A Gutierrez, Santos J Franco, Jeffrey K Moore   +4 more
doaj   +1 more source

Gastrointestinal malrotation and chronic intestinal pseudo‐obstruction in two pediatric patients with Baraitser‐Winter cerebrofrontofacial syndrome

JPGN Reports, EarlyView.
Abstract Baraitser‐Winter cerebrofrontofacial syndrome (BWCFF) is a rare congenital anomaly syndrome that can present with characteristics in multiple organ systems. These can include pachygyria, intellectual disability, seizures, congenital heart defects, renal malformations and gastrointestinal dysfunction.
Veronica Lee, Vikram Raghu, Jeffrey Rudolph, Feras Alissa, Vibha Sood   +4 more
wiley   +1 more source

Malformations of cortical development: Embryology and epilepsy

Epilepsia, EarlyView.
Abstract One in seven patients with focal epilepsy has a malformation of cortical development (MCD) as underlying cause. Understanding normal cortical development combined with knowledge of where, when, and what goes wrong in different types of MCD provides insight into the mechanisms of epileptogenesis.
M. Christianne Hoeberigs, Simon Tousseyn, on behalf of the ACE Study Group, Gwendolyn de Bruyn, Albert Colon, Jim Dings, Marc Hendriks, Danny Hilkman, Christianne Hoeberigs, Jochem van der Pol, Lotte de Jong, Kim Rijkers, Sylvia Klinkenberg, Vivianne van Kranen Mastenbroek, Jeske Nelissen, Pieter Kubben, Walter M. Palm, Rob P. W. Rouhl, Remco Santegoeds, Olaf Schijns, Ilse van Straaten, Marielle Vlooswijk, Louis Wagner, Dorien Weckhuysen   +23 more
wiley   +1 more source

Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Neuroaxonal dystrophy (NAD) with osteopetrosis syndrome (OMIM # 600329) was first reported in a consanguineous Moroccan Jewish family. However, to date, no genetic variant has been linked to this disease. We report on sibs, born to consanguineous Pakistani parents identified prenatally with cerebral ventriculomegaly and agenesis of the corpus ...
Yael Fisher, Orli Greenberg, Patrick Shannon, Andrea Staines, Bobbi McGivern, Melanie Patricia Napier, David Chitayat   +6 more
wiley   +1 more source

A Case of Adams–Oliver Syndrome

Advanced Biomedical Research, 2017
Adams–Oliver syndrome (AOS) is a rare congenital disorder with unknown etiology commonly presented with aplasia cutis and terminal limb defects. Central nervous and cardiopulmonary systems may also be affected.
Minoo Saeidi, Fahime Ehsanipoor
doaj   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 198, Issue 7, Page 76-87, October 2025.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

Bilateral iris, choroid, optic nerve colobomas and retinal detachment in an Egyptian patient with mild Baraitser–Winter syndrome

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, Heba Salah Abd-Elkhalek Elabd, Radwa Gamal   +2 more
doaj   +1 more source

Congenital pachygyria

Chinese Journal of Contemporary Neurology and Neurosurgery, 2016
Objective To investigate the imaging and clinicopathological features of pachygyria limited in the right temporo-parieto-occipital lobe and the key points of its diagnosis and treatment, in order to improve the recognition of this disease.
Jing-xia HU, Qiu-ping GUI, Wen-jing ZHOU, Mei-mei SUN, Jie LI, Xin SONG   +5 more
doaj  

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, Yadollah Zahedpasha, Mousa Ahmadpourkacho   +2 more
doaj  

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, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Tyhiesia Donald, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Shannon C. Shipley, Andrew E. Timms, Ghayda M. Mirzaa, Mercedes Serrano, Andrew K. Sobering   +12 more
wiley   +1 more source