Results 11 to 20 of about 4,566 (168)

Diverse Genetic Etiologies of Unilateral Polymicrogyria. [PDF]

Ann Neurol
Objective Polymicrogyria (PMG) is one of the most common human malformations of cortical development and is often classified by its radiographic pattern of distribution. Unilateral polymicrogyria (uPMG) is a subtype of PMG affecting a portion or all of one cerebral hemisphere.
Lai A, Neil JE, Akula SK, Amrom D, Andermann E, Bergin A, Caraballo R, Chen AY, Gaitanis J, Mochida GH, Gotoff JM, Kuchukhidze G, Marom D, ElAchkar CM, Regev M, Rodan LH, Olson H, Zhang B, Poduri A, Shao DD, Walsh CA, Yang E.   +21 more
europepmc   +2 more sources

Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant

Frontiers in Pediatrics, 2021
Pathogenic variants of the ADGRG1 gene are associated with bilateral frontoparietal polymicrogyria, defined radiologically by polymicrogyria with an anterior-posterior gradient, pontine and cerebellar hypoplasia and patchy white matter abnormalities.
Fábio Carneiro, Júlia Duarte, Francisco Laranjeira, Sofia Barbosa-Gouveia, María-Luz Couce, Maria José Fonseca   +5 more
doaj   +1 more source

Cortical Clefts and Cortical Bumps: A Continuous Spectrum [PDF]

Journal of Clinical and Diagnostic Research, 2016
Cortical ‘clefts’ (schizencephaly) and cortical ‘bumps’ (polymicrogyria) are malformations arising due to defects in postmigrational development of neurons.
Asthik Biswas, Farha Furruqh, Suresh Thirunavukarasu, Ravichandran Vivekandan   +3 more
doaj   +1 more source

Altered excitatory and inhibitory neocortical circuitry leads to increased convulsive severity after pentylenetetrazol injection in an animal model of schizencephaly, but not of microgyria

Epilepsia Open, 2022
Objective Malformations of the polymicrogyria spectrum can be mimicked in rodents through neonatal transcranial focal cortical freeze lesions. The animals presenting the malformations present both altered synaptic events and epileptiform activity in the ...
Luiza dosSantos Heringer, Julia Rios Carvalho, Julia Teixeira Oliveira, Bruna Texeira Silva, Domethila Mariano deSouza Aguiar dos Santos, Anna Lecticia Martinez Martinez Toledo, Laura Maria Borges Savoldi, Debora Magalhães Portela, Suelen Adriani Marques, Paula Campello Costa Lopes, Ana Maria Blanco Martinez, Henrique Rocha Mendonça   +11 more
doaj   +1 more source

Unilateral Perisylvian Syndrome with Subcortical Heterotopia: A Case Report [PDF]

International Journal of Anatomy Radiology and Surgery, 2022
Perisylvian syndrome is a neurological disorder in which a specific area of the brain (called the perisylvian area) develops abnormally, with polymicrogyria as the underlying developmental abnormality.
Mounisha Kethineni, Venkatesh Manchikanti, Niharika Prasad   +2 more
doaj   +1 more source

Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy

Annals of Indian Academy of Neurology, 2013
Polymicrogyria is a type of cortical dysplasia with cortical organizational defect. Bilateral polymicrogyria are distinct with genetic basis in a subset.
Javeria Nooraine, Kemmanu Vasudha, Sribhargava Natesh, Rajesh B Iyer, Seetharam Raghavendra   +4 more
doaj   +1 more source

Identification and clinical characteristics of a novel missense ADGRG1 variant in bilateral Frontoparietal Polymicrogyria: The electroclinical change from infancy to adulthood after Callosotomy in three siblings

Epilepsia Open, 2023
Objective Bilateral frontoparietal polymicrogyria (BFPP) is a rare genetic‐related migration disorder. It has been attributed to loss‐of‐function of the ADGRG1 gene, which encodes an adhesion G protein‐coupled receptor, ADGRG1/GPR56.
Cheng‐Yen Kuo, Meng‐Han Tsai, Hsi‐Hsien Lin, Yu‐Chi Wang, Abhishek Kumar Singh, Chih‐Chen Chang, Jainn‐Jim Lin, Po‐Cheng Hung, Kuang‐Lin Lin   +8 more
doaj   +1 more source

Congenital bilateral perislyvian syndrome: A rare case report

Radiology Case Reports, 2023
Congenital bilateral perisylvian syndrome, also known as bilateral periopercular syndrome or perisylvian polymicrogyria, is an exceptionally rare neurological disorder characterized by homogeneous clinicoradiological symptoms. There are consequently wide
Jihane EL Mandour, MD, Najoua Amsiguine, MD, Paulino Isumbo, MD, Jamal EL Fenni, MD, PhD, Meryem Edderai, MD, PhD   +4 more
doaj   +1 more source

Prenatal and postnatal evaluation of polymicrogyria with band heterotopia

Radiology Case Reports, 2017
The coexistence of band heterotopia and polymicrogyria is extremely rare though it has been reported in the presence of corpus callosum anomalies and megalencephaly.
Usha D. Nagaraj, MD, Robert Hopkin, MD, Mark Schapiro, MD, Beth Kline-Fath, MD   +3 more
doaj   +1 more source

Gait-Induced Epilepsy

Pediatric Neurology Briefs, 2001
A 3 year-old boy with gait-induced seizures is reported from University of Navarra, Pamplona, Spain.
J Gordon Millichap
doaj   +1 more source