X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
about
Dlx5 and Dlx6 regulate the development of parvalbumin-expressing cortical interneurons.A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)Basic mechanisms of catastrophic epilepsy -- overview from animal modelsDoublecortin knockout mice show normal hippocampal-dependent memory despite CA3 lamination defectsPathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studiesObtaining genetic testing in pediatric epilepsyLost highway(s): barriers to postnatal cortical neurogenesis and implications for brain repairMolecular mechanisms of epilepsyA regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXAutosomal recessive mutations in nuclear transport factor KPNA7 are associated with infantile spasms and cerebellar malformation.Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.Westward ho! Pioneering mouse models for x-linked infantile spasms syndrome.Mutations in ARX Result in Several Defects Involving GABAergic Neurons.Interneurons from embryonic development to cell-based therapy.Epilepsy genetics--past, present, and futureDeveloping an animal model for infantile spasms: pathogenesis, problems and progress.Genotype-phenotype correlation in neuronal migration disorders and cortical dysplasias.Impaired enteroendocrine development in intestinal-specific Islet1 mouse mutants causes impaired glucose homeostasis.Role of cytoskeletal abnormalities in the neuropathology and pathophysiology of type I lissencephalyThe promise of an interneuron-based cell therapy for epilepsyDysgenesis of enteroendocrine cells in Aristaless-Related Homeobox polyalanine expansion mutations.Differential effects of a polyalanine tract expansion in Arx on neural development and gene expression.Persistent Interneuronopathy in the Prefrontal Cortex of Young Adult Offspring Exposed to Ethanol In UteroUnique requirement for Rb/E2F3 in neuronal migration: evidence for cell cycle-independent functionsDevelopmental interneuron subtype deficits after targeted loss of ArxIdentification of Arx transcriptional targets in the developing basal forebrain.Infantile spasms: a critical review of emerging animal models.Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons.Interneuron Transplantation as a Treatment for Epilepsy.Neonatal and Infantile Epilepsy: Acquired and Genetic Models.Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations.PAFAH1B1 haploinsufficiency disrupts GABA neurons and synaptic E/I balance in the dentate gyrus.Chronic Gestational Exposure to Ethanol Leads to Enduring Aberrances in Cortical Form and Function in the Medial Prefrontal Cortex.Selective depletion of molecularly defined cortical interneurons in human holoprosencephaly with severe striatal hypoplasia.An in vitro model of lissencephaly: expanding the role of DCX during neurogenesis.Epileptic Encephalopathies as Neurodegenerative Disorders.The silver jubilee: Journal of Child Neurology turns 25.X-Linked Lissencephaly With Absent Corpus Callosum and Abnormal Genitalia: An Evolving Multisystem Syndrome With Severe Congenital Intestinal Diarrhea Disease.INTERNEURONOPATHIES AND THEIR ROLE IN EARLY LIFE EPILEPSIES AND NEURODEVELOPMENTAL DISORDERS.
P2860
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P2860
X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy".
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
X-linked lissencephaly with ab ...... new term, "interneuronopathy".
@en
X-linked lissencephaly with ab ...... new term, "interneuronopathy".
@nl
type
label
X-linked lissencephaly with ab ...... new term, "interneuronopathy".
@en
X-linked lissencephaly with ab ...... new term, "interneuronopathy".
@nl
prefLabel
X-linked lissencephaly with ab ...... new term, "interneuronopathy".
@en
X-linked lissencephaly with ab ...... new term, "interneuronopathy".
@nl
P2860
P1476
X-linked lissencephaly with ab ...... new term, "interneuronopathy".
@en
P2093
Mitsuhiro Kato
William B Dobyns
P2860
P304
P356
10.1177/08830738050200042001
P577
2005-04-01T00:00:00Z