Results 21 to 30 of about 4,566 (168)
Language Disorder with Focal Epilepsies
Pediatric Neurology Briefs, 2002 The relationship between language disorder and epileptic seizures was examined in 109 children, ages 5-17 years, attending a national center for epilepsy over a 4 year period and at the University of Manchester, UK.
J Gordon Millichap
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Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly
Frontiers in Genetics, 2020 NEDD4L encodes an ubiquitin ligase which is expressed in the cortex and ventricular zone of the fetal brain. Missense variants in NEDD4L have been reported in nine patients with periventricular nodular heterotopia (PNH), polymicrogyria, cleft palate, and
Katrien Stouffs +11 more
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BMC Neurology, 2022 Background Polymicrogyria refers to the disruption of normal cerebral cortical development late in neuronal migration or in early cortical organization.
Choong-Hee Roh +6 more
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Neurobiology of Disease, 2010 Lissencephaly–pachygyria-severe band heterotopia are diffuse neuronal migration disorders (NMDs) causing severe, global neurological impairment. Abnormalities of the LIS1, DCX, ARX, TUBA1A and RELN genes have been associated with these malformations ...
Renzo Guerrini, Elena Parrini
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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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Arquivos de Neuro-Psiquiatria, 2006 Specific language impairment (SLI) occurs when children present language maturation, at least 12 months behind their chronological age in the absence of sensory or intellectual deficits, pervasive developmental disorders, evident cerebral damage, and ...
Simone Rocha de Vasconcelos Hage +5 more
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Clinical and Functional Characterization of the Recurrent TUBA1A p.(Arg2His) Mutation
Brain Sciences, 2018 The TUBA1A gene encodes tubulin alpha-1A, a protein that is highly expressed in the fetal brain. Alpha- and beta-tubulin subunits form dimers, which then co-assemble into microtubule polymers: dynamic, scaffold-like structures that perform key functions ...
Jennifer F. Gardner +17 more
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The evaluation of unilateral closed-lip schizencephaly on complex MRI sequences [PDF]
Romanian Journal of Neurology, 2021 Schizencephaly is one of the rare cortical malformations that classify in the group of neurological migration defects. The appearance of the anomaly is in the form of a cleft that passes through the brain parenchyma.
Emrah Doğan
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Epilepsia Open, 2023 Fetal intracranial hemorrhage represents a rare event with an estimated prevalence of 1:10 000 pregnancies. We report a patient diagnosed prenatally with intracranial hemorrhage and ventriculomegaly carrying a novel, previously unreported, likely ...
Barbora Straka +10 more
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Frontiers in Neurology, 2019 The best results of stereoelectroencephalography (SEEG)-guided radiofrequency thermocoagulation (RF-TC) were observed in epilepsies with more limited lesions, but this procedure is rarely used in a wide range of brain malformation.
Yi'Ou Liu +7 more
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