Keywords: Neuronal migration; Cortical malformations; Lissencephaly; Tubulinopathies; Heterotopia; Microcephaly; Polymicrogyria; Atypical rare mutations; Exome sequencing; Human in vitro cultures; ZIKV;
مقالات ISI (ترجمه نشده)
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Keywords: Seizure; Mice; Focal cortical dysplasia; Heterotopia; Lissencephaly; Tuberous sclerosis;
Keywords: hemimegalencephaly; holoprosencephaly; lissencephaly; operculum; schizencephaly; Sylvian fissure; telencephalic flexure;
Keywords: Neuron; Microtubule; Radial glial cell; Centrosome; Lissencephaly;
Keywords: Malformations of cortical development; Genomic variants; Somatic mutation; Microcephaly; Megalencephaly; Cortical dysplasia; Lissencephaly; Polymicrogyria;
Keywords: DCX; Somatic mosaicism; Lissencephaly; Double cortex; Subcortical band heterotopia; Functional study; Doublecortin; Microtubule
A Practical Approach to Supratentorial Brain Malformations
Keywords: Brain malformation; Holoprosencephaly; Callosal dysgenesis; Lissencephaly; Pachygyria; Focal cortical dysplasia; Polymicrogyria; Cobblestone malformation;
Lissencephaly with agenesis of corpus callosum: A rare anomaly
Keywords: Lissencephaly; Corpus callosal agenesis; MRI;
LIS1-associated classic lissencephaly: A retrospective, multicenter survey of the epileptogenic phenotype and response to antiepileptic drugs
Keywords: Lissencephaly; LIS1; Epilepsy; Treatment; Brain malformation; Genotype-phenotype relationship
Efficacy of long term weekly ACTH therapy for intractable epilepsy
Keywords: ACTH; Intractable epilepsy; Infantile spasms; Atypical absence seizure; LIS1; Lissencephaly
A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease
Keywords: TUBA1A; Lissencephaly; Hirschsprung disease; Microcephaly; Syndrome of inappropriate antidiuretic hormone secretion (SIADH)
NDEL1 was decreased in the CA3 region but increased in the hippocampal blood vessel network during the spontaneous seizure period after pilocarpine-induced status epilepticus
Keywords: CA3; cornu ammonis 3; DG; dentate gyrus; DISC1; disrupted-in-schizophrenia-1; ERK; extracellular signal-regulated kinase; LIS1; lissencephaly; NDEL1; nuclear distribution factor E homolog like 1; PBS; phosphate-buffered saline; p-ERK; phosphorylated ERK;
EEG and neuroimaging correlations in children with lissencephaly
Keywords: Lissencephaly; EEG patterns; Interictal; Cortical activity; Sleep spindles;
Case reportLissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation
Keywords: TUBA1A; Lissencephaly; Ventricular dilation; Cerebellar hypoplasia;
The Reelin receptors ApoER2 and VLDLR are direct target genes of HIC1 (Hypermethylated In Cancer 1)
Keywords: HIC1; ApoER2; VLDLR; Tumor suppressor; Lissencephaly; Miller-Dieker syndrome; Purkinje cells;
The involvement of Reelin in neurodevelopmental disorders
Keywords: Reelin; Schizophrenia; Autism; Bipolar disorder; Major depression; Lissencephaly; Alzheimer's disease; Treatment
Frontotemporal pachygyria-Two new patients
Keywords: Lissencephaly; Pachygyria; Simplified gyral pattern; Brain malformation; Mental retardation
Molecular genetics in fetal neurology
Keywords: Agenesis of the corpus callosum; Genetics; Holoprosencephaly; Lissencephaly; Microarray
Iomazenil hyperfixation in single photon emission computed tomography study of malformations of cortical development during infancy
Keywords: Epileptogenesis; Gamma-aminobutyric acid; Hemimegalencephaly; Immaturity; Lissencephaly
Functional analyses of lissencephaly-related proteins in Dictyostelium
Keywords: Dictyostelium; Lissencephaly; LIS1; DCX; SUN1; Centrosome;
A model of cerebral cortex formation during fetal development using reaction–diffusion–convection equations with Turing space parameters
Keywords: Cerebral cortex; Polymicrogyria; Lissencephaly; Turing pattern; Numerical solution; Finite element; Continuum mechanics
Development and Dysgenesis of the Cerebral Cortex: Malformations of Cortical Development
Keywords: Cortex, development; Focal cortical dysplasia; Microcephaly; Macrocephaly; Lissencephaly; Cobblestone brain; Nodular heterotopia; Schizencephaly; Polymicrogyria;
Diffuse subcortical band heterotopia, periodic limb movements during sleep and a novel “de novo” mutation in the DCX gene
Keywords: Double cortex; Subcortical band heterotopia; Lissencephaly; Periodic limb movements; Neuronal migration disorders; Sleep disorders
Prenatal Sonographic Features of Miller-Dieker Syndrome
Keywords: 17p13.3 deletion; lissencephaly; Miller-Dieker syndrome; prenatal ultrasound
A novel strategy for therapeutic intervention for the genetic disease: Preventing proteolytic cleavage using small chemical compound
Keywords: Genetic disease; Haploinsufficiency; Lissencephaly; Calpain inhibitor; Protein augmentation
Lissencephaly: Mechanistic insights from animal models and potential therapeutic strategies
Keywords: Neurogenetic disease; Neuronal migration; Neurogenesis; Lissencephaly; Therapy
Characterization of the overlapping expression patterns of the zebrafish LIS1 orthologs
Keywords: LIS1; lis1a; lis1b; DISC1; Ndel1; Nde1; NUDEL; Zebrafish; Danio rerio; CNS; Central nervous system; Trigeminal ganglion; Peripheral nervous system; Eye; Neuronal migration; Schizophrenia; Lissencephaly
New trends in neuronal migration disorders
Keywords: Neuronal migration; Lissencephaly; Heterotopia; Polymicrogyria; Schizencephaly
Neuronal migration disorders
Keywords: Cerebral cortex; Development; Cortical malformation; Neuronal migration; MRI; Lissencephaly; Heterotopia; Polymicrogyria; Focal cortical dysplasia; Epilepsy
Analysis of the hypothalamus in a case of X-linked lissencephaly with abnormal genitalia (XLAG)
Keywords: Lissencephaly; XLAG; ARX gene; Hypothalamus; Diencephalon
Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity
Keywords: Forebrain; Telencephalon; Basal ganglia; Neurogenesis; GABA; Cell migration; Arx; Lissencephaly; West syndrome; Gene expression; Expression profile; Transcription factor
Treatment of epilepsy in severely disabled children with bilateral brain malformations
Keywords: Magnetoencephalography; Single photon emission computed tomography; Positron emission tomography; Potassium bromide; Lissencephaly; Polymicrogyria;
Fetal Neuroimaging of Neural Migration Disorder
Keywords: Fetus; Prenatal; Neuroimaging; Migration disorder; Lissencephaly; Cortical development;
Malformations cérébrales et épilepsie : présentations radiocliniques et implications pour le diagnostic génétique
Keywords: Ãpilepsie; Lissencéphalie; Hétérotopies laminaires sous-corticales; Polymicrogyrie; Epilepsy; Lissencephaly; Subcortical band heterotopia; Polymicrogyria;
A patient with simplified gyral pattern followed by progressive brain atrophy
Keywords: Brain malformation; Leukodystrophy; Lissencephaly; Progressive atrophy
Expression profiles of ndel1a and ndel1b, two orthologs of the NudE-Like gene, in the zebrafish
Keywords: Ndel1; NUDEL; ndel1a; ndel1b; NudE-Like; NudE; DISC1; LIS1; Zebrafish; Danio rerio; CNS; Somite; Somite maturation; Trigeminal ganglion; Eye; Retinal ganglion cell layer; Neurogenesis; Neuronal migration; Schizophrenia; lissencephaly;
Lissencéphalies : aspects cliniques et génétiques
Keywords: Lissencéphalie; Pachygyrie; LIS1; DCX; ARX; TUBA3; Miller-Dieker; Walker-Warburg; Fukuyama; MEB (Muscle-Eye-Brain); Microlissencéphalie; Lissencephaly; Pahygyria; LIS1; DCX; ARX; TUBA3; Miller-Dieker; Walker-Warburg; Fukuyama; MEB (Muscle-Eye-Brain); Mi
Reeler mutant mice exhibit seizures during recovery from isoflurane-induced anesthesia
Keywords: Forebrain seizure; Brainstem seizure; Isoflurane; Halogenated ether analogues; Cortical malformation; Lissencephaly
A new paradigm for West syndrome based on molecular and cell biology
Keywords: West syndrome; Infantile spasm; ARX; CDKL5; Lissencephaly; Interneuronopathy;
The Dimerization Mechanism of LIS1 and its Implication for Proteins Containing the LisH Motif
Keywords: homodimerization; protein structure; neuronal migration; lissencephaly; protein stabilityPAF-AH, PAF-acetylhydrolase; a.a., amino acid residue(s); GdmCl, guanidinium chloride; TFE, trifluoroethanol; HSQC, heteronuclear single quantum coherence
Site-specific dephosphorylation of doublecortin (DCX) by protein phosphatase 1 (PP1)
Keywords: Doublecortin; Lissencephaly; Phosphorylation; Protein phosphatase 1; Neurabin II; Spinophilin
Variations in genes regulating neuronal migration predict reduced prefrontal cognition in schizophrenia and bipolar subjects from mediterranean Spain: A preliminary study
Keywords: neuronal migration; prefrontal cognition; LIS1; platelet activating factor receptor; endophenotype; lissencephaly; ANCOVA; covariance analysis; CARS-M; Clinician-Administered Rating Scale for Mania Factor 1; HRSD; Hamilton Rating Scale for Depression; IQ;
Genetic interactions among cortical malformation genes that influence susceptibility to convulsions in C. elegans
Keywords: RNAi, RNA interference; PTZ, pentylenetetrazoleEpilepsy; Genetics; Lissencephaly; Caenorhabditis elegans; RNAi
Neuronal production and precursor proliferation defects in the neocortex of mice with loss of function in the canonical Wnt signaling pathway
Keywords: lissencephaly; neurogenesis; neural precursor; heterotopia; cortical lamination; neocortexBrdU, bromodeoxyuridine; LRP, low density lipoprotein receptor-related protein; pHH3, phosphohistone-H3; SVZ, subventricular zone; VZ, ventricular zone