Results 31 to 40 of about 8,041 (202)

Infantile spasms and developmental delay: A case of miller–Dieker syndrome

Indian Pediatrics Case Reports, 2023
Background: Miller–Dieker syndrome (MDS) is a rare genetic disorder, due to contiguous gene deletion on chromosome 17p13.3, characterized by classical type I lissencephaly, severe developmental delay, seizures, cardiac defects, and dysmorphisms.
Jewel Maria George, Carol Sara Cherian, Reji Thomas, Sebin Sunnychan   +3 more
doaj   +1 more source

Mutations in ARX result in several defects involving GABAergic neurons [PDF]

, 2010
Genetic investigations of X-linked mental retardation have demonstrated the implication of ARX in a wide spectrum of disorders extending from phenotypes with severe neuronal migration defects, such as lissencephaly, to mild or moderate forms of mental ...
Friocourt, G., Gaelle Friocourt, John G Parnavelas, Parnavelas, J.G.   +3 more
core   +1 more source

Characterizingwhite matter tract organization in polymicrogyria and lissencephaly: A multifiber diffusion mri modeling and tractography study [PDF]

, 2020
BACKGROUND AND PURPOSE: Polymicrogyria and lissencephaly may be associated with abnormal organization of the undelying white matter tracts that have been rarely investigated so far.
Leventer, R, Yang, JYM, Peruzzo, D, Arrigoni, F, Romaniello, R, Mandelstam, S, Amorosino, G, Borgatti, R, Redaelli, D, Seal, M   +9 more
core   +2 more sources

Structures of human dynein in complex with the lissencephaly 1 protein, LIS1

eLife, 2023
The lissencephaly 1 protein, LIS1, is mutated in type-1 lissencephaly and is a key regulator of cytoplasmic dynein-1. At a molecular level, current models propose that LIS1 activates dynein by relieving its autoinhibited form.
Janice M Reimer, Morgan E DeSantis, Samara L Reck-Peterson, Andres E Leschziner   +3 more
doaj   +1 more source

Brain Pathways in LIS1-Associated Lissencephaly Revealed by Diffusion MRI Tractography

Brain Sciences, 2023
Lissencephaly (LIS) is a rare neurodevelopmental disorder with severe symptoms caused by abnormal neuronal migration during cortical development. It is caused by both genetic and non-genetic factors.
Alpen Ortug, Briana Valli, José Luis Alatorre Warren, Tadashi Shiohama, Andre van der Kouwe, Emi Takahashi   +5 more
doaj   +1 more source

Dictyostelium discoideum: A Model System for Neurological Disorders

Cells, 2022
Background: The incidence of neurological disorders is increasing due to population growth and extended life expectancy. Despite advances in the understanding of these disorders, curative strategies for treatment have not yet eventuated. In part, this is
Claire Louise Storey, Robin Simon Brooke Williams, Paul Robert Fisher, Sarah Jane Annesley   +3 more
doaj   +1 more source

Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias

Frontiers in Neuroscience, 2015
Neuronal migration disorders are human (or animal) diseases that result from a disruption in the normal movement of neurons from their original birth site to their final destination during early development. As a consequence, the neurons remain somewhere
Mitsuhiro eKato, Mitsuhiro eKato
doaj   +1 more source

Responsible Genes for Neuronal Migration in the Chromosome 17p13.3: Beyond Pafah1b1(Lis1), Crk and Ywhae(14-3-3ε)

Brain Sciences, 2021
The 17p13.3 chromosome region is often deleted or duplicated in humans, resulting in severe neurodevelopmental disorders such as Miller–Dieker syndrome (MDS) and 17p13.3 duplication syndrome.
Xiaonan Liu, Sarah A. Bennison, Lozen Robinson, Kazuhito Toyo-oka   +3 more
doaj   +1 more source

A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene

Clinical Case Reports, 2021
Reelinopathies cause a distinctive lissencephaly type associated with cerebellar hypoplasia. To help further management, we wanted to report here the first prenatal diagnosis due to a homozygous inherited reelinopathy.
Claire Balza, Giulia Garofalo, Teresa Cos, Julie Désir, Xin Kang, Kathelijn Keymolen, Julie Soblet, Kim Van Berkel, Catheline Vilain, Wafa Ben Abbou, Marie Cassart   +10 more
doaj   +1 more source

Evaluating discrepancies between high‐yield neuroscience conditions in preclerkship medical education and national clinical incidence

Anatomical Sciences Education, EarlyView.
Abstract Medical education must balance foundational science with clinical relevance. Increasing emphasis on standardized assessments has led to prioritization of “high‐yield” conditions—those most likely to be assessed. Subsequently, educators and students often prioritize these conditions.
Kathryn Veazey, Oheneba Boadum
wiley   +1 more source