[HTML][HTML] Epilepsy as a neurodevelopmental disorder

Y Bozzi, S Casarosa, M Caleo - Frontiers in psychiatry, 2012 - frontiersin.org
Epilepsy is characterized by spontaneous recurrent seizures and comprises a diverse group
of syndromes with different etiologies. Epileptogenesis refers to the process whereby the …

ARX spectrum disorders: making inroads into the molecular pathology

C Shoubridge, T Fullston, J Gécz - Human mutation, 2010 - Wiley Online Library
The Aristaless‐related homeobox gene (ARX) is one of the most frequently mutated genes
in a spectrum of X‐chromosome phenotypes with intellectual disability (ID) as their cardinal …

Molecular taxonomy of major neuronal classes in the adult mouse forebrain

K Sugino, CM Hempel, MN Miller, AM Hattox… - Nature …, 2006 - nature.com
Identifying the neuronal cell types that comprise the mammalian forebrain is a central
unsolved problem in neuroscience. Global gene expression profiles offer a potentially …

[HTML][HTML] Tbr2 directs conversion of radial glia into basal precursors and guides neuronal amplification by indirect neurogenesis in the developing neocortex

A Sessa, C Mao, AK Hadjantonakis, WH Klein… - Neuron, 2008 - cell.com
Summary T-brain gene-2 (Tbr2) is specifically expressed in the intermediate (basal)
progenitor cells (IPCs) of the developing cerebral cortex; however, its function in this …

Lmx1a and lmx1b function cooperatively to regulate proliferation, specification, and differentiation of midbrain dopaminergic progenitors

CH Yan, M Levesque, S Claxton… - Journal of …, 2011 - Soc Neuroscience
LIM homeodomain transcription factors, Lmx1a and Lmx1b, are required for the
development of midbrain dopaminergic (mDA) neurons. Lmx1b is required for the …

A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx (GCG) 10+ 7, with interneuronopathy, spasms in infancy, persistent seizures, and …

MG Price, JW Yoo, DL Burgess, F Deng… - Journal of …, 2009 - Soc Neuroscience
Infantile spasms syndrome (ISS) is a catastrophic pediatric epilepsy with motor spasms,
persistent seizures, mental retardation, and in some cases, autism. One of its monogenic …

[HTML][HTML] Genetic regulation of vertebrate forebrain development by homeobox genes

RF Leung, AM George, EM Roussel, MC Faux… - Frontiers in …, 2022 - frontiersin.org
Forebrain development in vertebrates is regulated by transcription factors encoded by
homeobox, bHLH and forkhead gene families throughout the progressive and overlapping …

Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus

R Guerrini, F Moro, M Kato, AJ Barkovich, T Shiihara… - Neurology, 2007 - AAN Enterprises
Background: ARX is a paired-type homeobox gene located on the X chromosome that
contains five exons with four polyalanine (PolyA) tracts, a homeodomain, and a conserved C …

Arx is a direct target of Dlx2 and thereby contributes to the tangential migration of GABAergic interneurons

G Colasante, P Collombat, V Raimondi… - Journal of …, 2008 - Soc Neuroscience
The Arx transcription factor is expressed in the developing ventral telencephalon and
subsets of its derivatives. Mutation of human ARX ortholog causes neurological disorders …

[HTML][HTML] Nervous tract-bioinspired multi-nanoyarn model system regulating neural differentiation and its transcriptional architecture at single-cell resolution

Z Li, Y Qi, Z Li, S Chen, H Geng, J Han, J Wang… - Biomaterials, 2023 - Elsevier
Bioinspired by native nervous tracts, a spinal cord-mimicking model system that was
composed of multiple nanofibrous yarns (NYs) ensheathed in a nanofibrous tube was …