Results 1 to 10 of about 8,041 (202)
Cytomegalovirus infection with lissencephaly
Indian Journal of Pathology and Microbiology, 2008 Lissencephaly is a malformation of the brain in which the brain surface is smooth, rather than convoluted. Among the various causes of lissencephaly, infection by a virus during pregnancy plays an important role.
Joseph Leena +2 more
doaj +4 more sources
GENOTYPE-PHENOTYPE CORRELATION IN CASES WITH LISSENCEPHALY SPECTRUM
Sabiad, 2022 Objective: In this study, we aimed to evaluate six cases diagnosed with lissencephaly in terms of the genotype-phenotype correlation. Materials and Methods: Six cases with lissencephaly, which were followed up in our outpatient clinic, were included in ...
Ayça Dilruba Aslanger +4 more
doaj +2 more sources
Prenatal diagnosis of lissencephaly: A case report [PDF]
Vojnosanitetski Pregled, 2016 Introduction. Lissencephaly (“smooth brain”) forms a major group of brain malformations due to abnormal neuronal migration. It can cause severe intellectual and motor disability and epilepsy in children.
Cerovac Nataša +5 more
doaj +2 more sources
Lissencephaly in Shih Tzu dogs
Acta Veterinaria Scandinavica, 2020 Background Lissencephaly is a brain malformation characterized by smooth and thickened cerebral surface, which may result in structural epilepsy. Lissencephaly is not common in veterinary medicine.
Diego Noé Rodríguez-Sánchez +4 more
doaj +2 more sources
MRI-based spectral analysis of fetal brain gyrification in typical development and in lissencephaly and polymicrogyria [PDF]
Scientific ReportsCortical gyrification is a key marker of fetal brain development and is typically assessed qualitatively on ultrasound or MRI. While previous quantitative approaches have characterized gestational trajectories in typically developing (TD) fetuses, only a
Bossmat Yehuda +6 more
doaj +2 more sources
Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly [PDF]
Orphanet Journal of Rare DiseasesBackground Classic lissencephaly is a malformation of cortical development that includes agyria and pachygyria. The major clinical symptoms are developmental impairment, muscular hypotonia, and drug-resistant epilepsy.
Christiane R. Proepper +33 more
doaj +2 more sources
Lissencephaly with Congenital Hypothyroidism: A Case Report
Journal of Nepal Medical Association, 2022 Lissencephaly is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The lissencephaly spectrum consists of agyria, pachygyria, and subcortical band heterotopia. At
Shambhu Kumar Sahani +3 more
doaj +1 more source
Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1976 SUMMARY:The first reported case of lissencephaly resulting from a consanguinous union strengthens the supposition that in some cases, it is transmitted as an autosomal recessive trait. Comparison of this case with a sporadically occuring case of lissencephaly, with different cortical morphology, suggests that lissencephaly may be an example of either ...
M G, Norman +3 more
openaire +2 more sources
Hind Brain Agenesis A Rare Imaging Findings In Cerebro Cerebellar Lissencephalic Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2014 A case report of cerebro cerebellar lissencephaly shows complete agenesis of cerebellum and brainstem which is rare imaging finding of group lissencephaly (type I lissencephaly).
Praveen M. Mundaganur +2 more
doaj +1 more source
A Novel PAFAH1B1 Splicing Variant Identified in a Patient with Classical Lissencephaly
Tokyo Women's Medical University Journal, 2020 Lissencephaly is a severe brain malformation associated with abnormal formation of cerebral sulci. Until now, many genes related to lissencephaly have been identified.
Tomoe Yanagishita +5 more
doaj +1 more source