Results 11 to 20 of about 13,805 (257)
Lissencephaly in Shih Tzu dogs [PDF]
Acta Veterinaria Scandinavica, 2020 Background Lissencephaly is a brain malformation characterized by smooth and thickened cerebral surface, which may result in structural epilepsy. Lissencephaly is not common in veterinary medicine.
Diego Noé Rodríguez-Sánchez +4 more
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Perampanel in lissencephaly-associated epilepsy
Epilepsy and Behavior Case Reports, 2019 We retrospectively investigated whether perampanel (PER) could serve as an alternative for treating drug-resistant seizures in lissencephaly. We investigated the following data: age at onset of epilepsy, age at start of PER, etiology, brain MRI findings,
Satoru Ikemoto +4 more
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Lissencephaly with Congenital Hypothyroidism: A Case Report
Journal of Nepal Medical Association, 2022 Lissencephaly is a malformation of cortical development associated with deficient neuronal migration and abnormal formation of cerebral convolutions or gyri. The lissencephaly spectrum consists of agyria, pachygyria, and subcortical band heterotopia. At
Shambhu Kumar Sahani +3 more
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Prenatal Diagnosis of Lissencephaly Associated with Biallelic Pathologic Variants in the COQ2 Gene
Acta Médica Portuguesa, 2022 Primary CoQ10 deficiency comprises several clinical phenotypes. Nevertheless, there are no reports so far of lissencephaly linked to CoQ10 deficiency. Lissencephaly is a developmental condition associated with defective neuronal migration which may be ...
Rita Rosado Santos +2 more
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Structures of human dynein in complex with the lissencephaly 1 protein, LIS1
eLife, 2023 The lissencephaly 1 protein, LIS1, is mutated in type-1 lissencephaly and is a key regulator of cytoplasmic dynein-1. At a molecular level, current models propose that LIS1 activates dynein by relieving its autoinhibited form.
Janice M Reimer +3 more
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Pediatric Neurology Briefs, 1990 The diagnostic features and clinical signs of 21 patients with lissencephaly type I are reviewed from the Department of Neurology, Westeinde Hospital, The Hague, The Netherlands; the Departments of Child Neurology, Academic Medical Centre, Amsterdam, and
J Gordon Millichap
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Structural and Diffusion MRI Analyses With Histological Observations in Patients With Lissencephaly
Frontiers in Cell and Developmental Biology, 2019 The development of cortical convolutions, gyri and sulci, is a complex process that takes place during prenatal development. Lissencephaly, a rare genetic condition characterized by the lack of cortical convolutions, offers a model to look into ...
Lana Vasung +20 more
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A prenatal case of lissencephaly with cerebellar hypoplasia: New mutation in RELN gene
Clinical Case Reports, 2021 Reelinopathies cause a distinctive lissencephaly type associated with cerebellar hypoplasia. To help further management, we wanted to report here the first prenatal diagnosis due to a homozygous inherited reelinopathy.
Claire Balza +10 more
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Lissencephaly: Causal Heterogeneity
Pediatric Neurology Briefs, 1992 Clinical, cytogenetic and molecular studies in 65 patients with isolated lissencephaly sequence (ILS) are reported from Indiana University School of Medicine, Indianapolis; Tufts New England Medical Center, Boston; Eastern Virginia Medical School ...
J Gordon Millichap
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Lissencephaly: EEG and Evoked Potentials
Pediatric Neurology Briefs, 1992 The EEGs and evoked potentials were studied in 21 Dutch patients with lissencephaly type I at the Departments of Clinical Neurophysiology and Neurology, Juliana Children’s Hospital, The Hague, The Netherlands.
J Gordon Millichap
doaj +4 more sources