Results 81 to 90 of about 7,462 (203)
Hippocampal and Congenital Brain Malformations
Pediatric Neurology Briefs, 2009 Sixty two patients, aged 15 days to 18 years, with congenital brain malformations were evaluated retrospectively to determine the association of various brain malformations with hippocampal abnormalities, in a study at Baskent University, Ankara, Turkey.
J Gordon Millichap
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Cobblestone lissencephaly with normal eyes and muscle
, 1996 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
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The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend
Journal of Developmental Biology, 2017 Microtubules are dynamic cytoskeletal polymers that mediate numerous, essential functions such as axon and dendrite growth and neuron migration throughout brain development.
Jayne Aiken +3 more
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Genes, Brain and Behavior, Volume 25, Issue 2, April 2026.In the habituation task, locomotion speed, whisker angular position and whisker spread decreased between the first two consecutive sessions in all mice, suggesting that the animals were less focused on sampling the area as they got more familiar with the environment.
Ugne Simanaviciute +5 more
wiley +1 more source
Both doublecortin and doublecortin-like kinase play a role in cortical interneuron migration
, 2007 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
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Septo-optic dysplasia with lissencephaly
, 2012 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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eLife, 2020 Type I lissencephaly is a neuronal migration disorder caused by haploinsuffiency of the PAFAH1B1 (mouse: Pafah1b1) gene and is characterized by brain malformation, developmental delays, and epilepsy.
Tyler G Ekins +6 more
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American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim +9 more
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Lissencephaly Type III Syndrome
, 1996 Arthrogryposis multiplex congenita (AMC), called fetal akinesia sequence (FAS) in this study of 5 lethal cases, was associated with a distinctive neuropathological pattern, named type III lissencephaly syndrome, as reported from the Hopital Henri Mondor,
J Gordon Millichap
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Clinical features of 21 patients with lissencephaly type I (agyria-pachygyria)
The Turkish Journal of Pediatrics, 2000 Lissencephaly (agyria-pachygyria) is the most severe neuronal migration disorder, characterized by total or partial absence of gyri. In this study, 21 patients with lissencephaly type I (9 girls, 12 boys) with a mean age of 19 +/- 21 months (2 ...
M Ozmen +4 more
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