Gynecology Obstetrics & Reproductive Medicine, 2014 We present the abnormal sonographic findings in the brain of a 26-week fetus, which increased the suspicion of isolated lissencephaly. The woman had a history of prednisolone use in early pregnancy, and conceived with copper containing intra uterine ...
Mehmet Serdar Kütük +4 more
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Lissencephaly with subcortical band heterotopia in an East African child: A case report [PDF]
Radiology Case ReportsLissencephaly is a rare neuronal migration defect that results in a smooth cerebral surface, mental retardation, and seizures. It is diagnosed primarily by correlating clinical manifestations with MRI findings. We present a case of a 3-year-old girl with
Elisamia Ngowi +4 more
doaj +2 more sources
Clinical features of 21 patients with lissencephaly type I (agyria-pachygyria)
The Turkish Journal of Pediatrics, 2000 Lissencephaly (agyria-pachygyria) is the most severe neuronal migration disorder, characterized by total or partial absence of gyri. In this study, 21 patients with lissencephaly type I (9 girls, 12 boys) with a mean age of 19 +/- 21 months (2 ...
M Ozmen +4 more
doaj +3 more sources
Complete seizure freedom following minimally invasive laser callosotomy in a patient with lissencephaly type 1: Challenging the traditional paradigm. [PDF]
Epileptic DisordEpileptic Disorders, Volume 28, Issue 5, Page 1705-1708, October 2026.
Dema A +4 more
europepmc +2 more sources
A rhesus macaque model of α-dystroglycanopathy caused by a POMT1 splice altering variant. [PDF]
Animal Model Exp MedRhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Nordlund A +7 more
europepmc +2 more sources
Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I. [PDF]
Prenat DiagnABSTRACT Objective To present the prenatal sonographic features, genomic findings, and pregnancy outcomes of fetuses with biallelic pathogenic RNU4ATAC variants linked to microcephalic osteodysplastic primordial dwarfism type I (MOPD1). Methods This retrospective case series includes five prenatal cases with MOPD1.
Liebmann A +8 more
europepmc +2 more sources
The Role of Hippocampal Interneuron Migration in Neurodevelopmental Disorders: A Systematic Review. [PDF]
HippocampusABSTRACT Hippocampal abnormalities are frequently associated with neurodevelopmental disorders as interneurons are crucial in establishing the network connectivity of neurons. This systematic review analyzed primary literature with a focus on aberrant hippocampal interneuron migration as an etiology for neurodevelopmental disorders, summarizing the ...
Till MAC +3 more
europepmc +2 more sources
Lissencephaly-A Brain Flawed [PDF]
, 2016 We present a case report of a twelve-day old child suffering from seizures, in which magnetic resonance imaging (MRI) established the diagnosis of Lissencephaly.
Gupta, Saryu, Mathur, Manoj
core +1 more source
Structural and Diffusion MRI Analyses With Histological Observations in Patients With Lissencephaly
Frontiers in Cell and Developmental Biology, 2019 The development of cortical convolutions, gyri and sulci, is a complex process that takes place during prenatal development. Lissencephaly, a rare genetic condition characterized by the lack of cortical convolutions, offers a model to look into ...
Lana Vasung +20 more
doaj +1 more source
Prenatal Diagnosis of Lissencephaly Associated with Biallelic Pathologic Variants in the COQ2 Gene
Acta Médica Portuguesa, 2022 Primary CoQ10 deficiency comprises several clinical phenotypes. Nevertheless, there are no reports so far of lissencephaly linked to CoQ10 deficiency. Lissencephaly is a developmental condition associated with defective neuronal migration which may be ...
Rita Rosado Santos +2 more
doaj +1 more source