Results 71 to 80 of about 8,041 (202)

Lissencephaly: Clinical and MRI Findings

, 1991
Clinical data and MRI scans from 10 patients age 3 days to 27 years (mean age 4.6 years) with lissencephaly were reviewed in the Departments of Radiology, Neurology and Pediatrics, University of California, San Francisco ...
J Gordon Millichap
core   +1 more source

DCX knockout ferret reveals a neurogenic mechanism in cortical development

Cell Reports
Summary: Lissencephaly is a rare brain malformation for which our understanding remains limited due to the absence of suitable animal models that accurately represent human phenotypes.
Wei Wang, Chonghai Yin, Shaonan Wen, Zeyuan Liu, Bosong Wang, Bo Zeng, Le Sun, Xin Zhou, Suijuan Zhong, Junjing Zhang, Wenji Ma, Qian Wu, Xiaoqun Wang   +12 more
doaj   +1 more source

EEG in lissencephaly [PDF]

International Journal of Epilepsy, 2014
AbstractWe report the characteristic EEG findings of an infant with lissencephaly who presented with infantile spasms.
Satinder Aneja, Puneet Jain, Suvasini Sharma   +2 more
openaire   +1 more source

Variants in CEP135 Cause Congenital Microcephaly and Primary Ciliary Dyskinesia

Pediatric Pulmonology, Volume 61, Issue 10, October 2026.
ABSTRACT Introduction Primary ciliary dyskinesia (PCD), a disorder of motile ciliary dysfunction causing chronic respiratory infections, may also rarely present with aspects of non‐motile ciliary dysfunction, including retinitis, central nervous system malformations, skeletal dysplasia, and sensorineural hearing loss.
Abigail Bergman‐Sieger, Marc‐André Turcot, Lawrence E. Ostrowski, Patrick R. Sears, Maimoona A. Zariwala, Fateh Bechkir, Lisa R. Young, Adam J. Shapiro, Maureen B. Parenti   +8 more
wiley   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Neurodevelopmental Genetic Diseases Associated With Microdeletions and Microduplications of Chromosome 17p13.3

Frontiers in Genetics, 2018
Chromosome 17p13.3 is a region of genomic instability that is linked to different rare neurodevelopmental genetic diseases, depending on whether a deletion or duplication of the region has occurred.
Sara M. Blazejewski, Sarah A. Bennison, Trevor H. Smith, Kazuhito Toyo-oka   +3 more
doaj   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1759-1771, September 2026.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Pericerebral spaces as diagnostic signposts in fetal central nervous system pathologies

Ultrasound in Obstetrics &Gynecology, EarlyView.
L. Guibaud, S. Cabet
wiley   +1 more source

TUBA1A mutations: from isolated lissencephaly to familial polymicrogyria

, 2011
Background: Mutations in the TUBA1A gene have been reported in patients with lissencephaly and perisylvian pachygyria. Methods: Twenty-five patients with malformations of cortical development ranging from lissencephaly to polymicrogyria were screened ...
Oostra, AnnUGent801001870844972401982708F72B4A8A-F0ED-11E1-A9DE-61C894A0A6B4, Desprechins, B, Oostra, Ann, B. Desprechins, Jansen, AC, De Vlaeminck, Y, Bockaert, N, P. Verloo, Keymolen, K, Y. De Vlaeminck, W. Lissens, Seneca, S, Verhelst, HeleneGE35UZGent0019871446268020014817120000-0001-9433-79980136DDBE-F0EE-11E1-A9DE-61C894A0A6B4, De Meirleir, L, Regal, L, S. Seneca, L. Regal, N. Bockaert, K. Keymolen, L. De Meirleir, Verhelst, Helene, Lissens, W, H. Verhelst, A. Oostra, VERLOO, PATRICK, A. C. Jansen, VERLOO, PATRICKGE35UZGent0019920957678020045379190000-0003-2077-02751868fe89-8279-11ee-93ae-e96c8f1c45ee, A C Jansen   +27 more
core   +1 more source

Electrographic Changes Accompanying Recurrent Seizures under Ketogenic Diet Treatment

Pharmaceuticals, 2017
The ketogenic diet (KD) is increasingly used to treat epilepsy refractory to antiepileptic drugs and other neurological disorders. In animal models, the KD was found to increase the threshold to seizures induced by different convulsive stimulations ...
Chiara Lucchi, Maddalena Marchiò, Elisa Caramaschi, Carmela Giordano, Rocco Giordano, Azzurra Guerra, Giuseppe Biagini   +6 more
doaj   +1 more source