Results 31 to 40 of about 2,258 (187)

Diagnostic yield of chromosomal microarray and trio whole exome sequencing in congenital brain anomalies

European Psychiatry, 2023
Introduction The deductive method: from karyotyping to aCGH and WES is an important aspect in the diagnosis and search for the causes of intellectual disability due to congenital brain anomalies. There is recommendation to exclude the presence of CNV or
E. A. Fonova, A. A. Kashevarova, M. E. Lopatkina, A. A. Sivtsev, A. A. Zarubin, V. V. Demeneva, G. N. Seitova, L. I. Minaycheva, O. A. Salyukova, S. V. Fadyushina, V. V. Petrova, E. O. Belyaeva, L. P. Nazarenko, I. N. Lebedev   +13 more
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CHARGE Syndrome

Pediatric Neurology Briefs, 1991
A 12 month old male infant with the CHARGE syndrome (Coloboma, Heart defect, Atresia of the choana, Retarded growth and development, Genital hypoplasia, Ear anomalies or deafness) is reported from the Departments of Pediatrics and Neurology, Loyola ...
J Gordon Millichap
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Characteristics of symptomatic epilepsy and other neurological disorders in children with lissencephaly

Бюллетень сибирской медицины, 2018
Brain malformations are one of the most frequent causes of epilepsy in childhood. In patients with malformations of the brain epilepsy is diagnosed in 75–80% of cases.
V. I. Guzeva, I. V. Ochrim, V. R. Kasumov, O. V. Guzeva, V. V. Guzeva, N. E. Maksimova   +5 more
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Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia

BMC Medical Genomics, 2021
Background Periventricular nodular heterotopia (PNH) is a malformation of cortical development characterized by nodules of abnormally migrated neurons.
Carla De Angelis, Alicia B. Byrne, Rebecca Morrow, Jinghua Feng, Thuong Ha, Paul Wang, Andreas W. Schreiber, Milena Babic, Ajay Taranath, Nick Manton, Sarah L. King-Smith, Quenten Schwarz, Peer Arts, Hamish S. Scott, Christopher Barnett   +14 more
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Inhibitory synapse dysfunction and epileptic susceptibility associated with KIF2A deletion in cortical interneurons

Frontiers in Molecular Neuroscience, 2023
Malformation of cortical development (MCD) is a family of neurodevelopmental disorders, which usually manifest with intellectual disability and early-life epileptic seizures.
Nuria Ruiz-Reig, Dario García-Sánchez, Olivier Schakman, Philippe Gailly, Fadel Tissir, Fadel Tissir   +5 more
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Variants in LAMC3 Causes Occipital Cortical Malformation

Frontiers in Genetics, 2021
Occipital cortical malformation (OCCM) is a disease caused by malformations of cortical development characterized by polymicrogyria and pachygyria of the occipital lobes and childhood-onset seizures.
Xiaohang Qian, Xiaoying Liu, Zeyu Zhu, Shige Wang, Xiaoxuan Song, Guang Chen, Jingying Wu, Yuwen Cao, Xinghua Luan, Xinghua Luan, Huidong Tang, Li Cao, Li Cao   +12 more
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Galloway-Mowat syndrome in Taiwan: OSGEP mutation and unique clinical phenotype

Orphanet Journal of Rare Diseases, 2018
Background Galloway-Mowat syndrome (GAMOS) is a rare autosomal recessive disease characterized by the combination of glomerulopathy with early-onset nephrotic syndrome and microcephaly with central nervous system anomalies.
Pei-Yi Lin, Min-Hua Tseng, Martin Zenker, Jia Rao, Friedhelm Hildebrandt, Shih-Hua Lin, Chun-Chen Lin, Jui-Hsing Chang, Chyong-Hsin Hsu, Ming-Dar Lee, Shuan-Pei Lin, Jeng-Daw Tsai   +11 more
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Microduplication 3p26.3p24.3 and 4q34.3q35.2 Microdeletion Identified in a Patient with Developmental Delay Associated with Brain Malformation

Diagnostics, 2022
Microdeletions and microduplications are involved in many of prenatal and postnatal cases of multiple congenital malformations (MCM), developmental delay/intellectual disability (DD/ID), and autism spectrum disorders (ASD). Molecular karyotyping analysis
Georgeta Cardos, Nicolae Gica, Corina Gica, Anca Maria Panaitescu, Mariana Predescu, Gheorghe Peltecu, Florina Mihaela Nedelea   +6 more
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Polymicrogyria Clinical/Imaging Heterogeneity

Pediatric Neurology Briefs, 2010
Researchers at the Royal Children's Hospital. Melbourne, Australia, and other international centers studied the imaging features of 328 patients with polymicrogyria referred from 6 centers, with detailed clinical data for 183 patients.
J Gordon Millichap
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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, Giovana Boff Araujo Pinto, Edval Fernando Thomé, Vânia Maria de Vasconcelos Machado, Rogério Martins Amorim   +4 more
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