Results 41 to 50 of about 7,495 (203)
Characterizingwhite matter tract organization in polymicrogyria and lissencephaly: A multifiber diffusion mri modeling and tractography study [PDF]
BACKGROUND AND PURPOSE: Polymicrogyria and lissencephaly may be associated with abnormal organization of the undelying white matter tracts that have been rarely investigated so far.
Borgatti R. +9 more
core +4 more sources
Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias
Neuronal migration disorders are human (or animal) diseases that result from a disruption in the normal movement of neurons from their original birth site to their final destination during early development. As a consequence, the neurons remain somewhere
Mitsuhiro eKato, Mitsuhiro eKato
doaj +1 more source
Lissencephaly: Clinical and MRI Findings [PDF]
Clinical data and MRI scans from 10 patients age 3 days to 27 years (mean age 4.6 years) with lissencephaly were reviewed in the Departments of Radiology, Neurology and Pediatrics, University of California, San Francisco ...
J Gordon Millichap
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Lissencephaly Type I Associated with Lennox-Gastaut Syndrome in a 20-Year-old man : a Case Report [PDF]
Lissencephaly is associated with various types of intractable epilepsy. However, complication by Lennox-Gastaut syndrome is rare. We report an adult patient with Lissencephaly type I complicated by Lennox-Gastaut syndrome, along with a review of the ...
Imataka, George +6 more
core +1 more source
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini +6 more
wiley +1 more source
Abstract Objective The olive oil–based Mediterranean ketogenic diet (MedKD) may support patients with drug‐resistant epilepsy (DRE) or neurometabolic disorders by integrating ketogenic therapy with the cardiometabolic and neuroprotective advantages of the Mediterranean diet.
Sofia Zouganeli +8 more
wiley +1 more source
Cobblestone lissencephaly with normal eyes and muscle [PDF]
Cobblestone lissencephaly is the characteristic brain malformation observed in Fukuyama congenital muscular dystrophy (FCMD), muscle-eye-brain disease (MEB), and Walker-Warburg syndrome (WWS). The diagnostic criteria for all three require the presence of
Blanton, S H +5 more
core +1 more source
Both doublecortin and doublecortin-like kinase play a role in cortical interneuron migration [PDF]
Type I lissencephaly, a genetic disease characterized by disorganized cortical layers and gyral abnormalities, is associated with severe cognitive impairment and epilepsy.
Rakic, S +5 more
core
Abstract Objective To evaluate the diagnostic utility and genetic spectrum of next‐generation sequencing (NGS) in a large, well‐phenotyped cohort of Turkish pediatric patients with epilepsy of unknown etiology. Methods Between January 2021 and December 2024, 250 children (115 female, 135 male) with unexplained epilepsy underwent either whole‐exome ...
Derya Karaer +4 more
wiley +1 more source
Septo-optic dysplasia with lissencephaly [PDF]
Septo –optic dysplasia with lissencephaly rarely occurs simultaneously. We describe such a patient presenting with absent visual fixation, mild developmental delay, ophthalmological examination revealed small pale optic disc with typical double rim and B/
Kumar Amritanshu
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