Abnormal subplate t2 hyperintensity involving the fetal brain in the second trimester: A heralding sign of polymicrogyria [PDF]
, 2018 Fetal magnetic resonance imaging (MRI) has a high sensitivity and specificity in the diagnosis of cortical brain malformation in fetuses older than 24 weeks gestational age.
Saade, Charbel +4 more
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Clinical and imaging heterogeneity of polymicrogyria: A study of 328 patients
, 2010 Polymicrogyria is one of the most common malformations of cortical development and is associated with a variety of clinical sequelae including epilepsy, intellectual disability, motor dysfunction and speech disturbance.
Scheffer, Ingrid E. +15 more
core +1 more source
Multimodal MRI analysis of bilateral perisylvian polymicrogyria case and absent speech
, 2023 This project corresponds to the following research paper: Functional dysregulation of the auditory cortex in bilateral perisylvian polymicrogyria: multiparametric case analysis of the absent speech ...
Dominika Slušná
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Egyptian Journal of Medical Human GeneticsBackground Polymicrogyria is a spectrum of complex cortical malformations encompassing multiple subtypes. Of these, bilateral frontoparietal polymicrogyria (BFPP) has been associated with pathogenic variants in the ADGRG1 gene, formerly known as GPR56 ...
Dalida El Khatib +7 more
doaj +1 more source
Clinical and electroencephalographic features of patients with polymicrogyria [PDF]
, 2018 Orientador: Marilisa Mantovani GuerreiroDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias MedicasResumo: Polimicrogiria é uma malformação da organização cortical que se caracteriza por múltiplos pequenos giros separados ...
Teixeira, Karine Couto Sarmento, 1974-
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Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children
Orphanet Journal of Rare DiseasesBackground Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by mosaic tetrasomy of 12p with wide neurological involvement. Intellectual disability, developmental delay, behavioral problems, epilepsy, sleep disturbances, and brain ...
Anna Fetta +30 more
doaj +1 more source
TMX2-Related Neurodevelopmental Disorder With Bilateral Polymicrogyria and Syndactyly: A Case Report From Morocco. [PDF]
CureusBaaziz A, Mdaghri Alaoui A.
europepmc +1 more source
Novel Homozygous <i>LAMC3</i> Frameshift Variant Associated with Confluent Leukoencephalopathy and Low-Grade Tectal Glioneuronal Tumor: Expanding the Phenotypic Spectrum with Bioinformatic Characterization. [PDF]
Life (Basel)Bozlak S +8 more
europepmc +1 more source