Malformations of cerebral cortex development: molecules and mechanisms

G Juric-Sekhar, RF Hevner - Annual Review of Pathology …, 2019 - annualreviews.org
Malformations of cortical development encompass heterogeneous groups of structural brain
anomalies associated with complex neurodevelopmental disorders and diverse genetic and …

Genetics and mechanisms leading to human cortical malformations

DM Romero, N Bahi-Buisson, F Francis - Seminars in cell & developmental …, 2018 - Elsevier
Cerebral cortical development involves a complex series of highly regulated steps to
generate the laminated structure of the adult neocortex. Neuronal migration is a key part of …

An mtDNA mutant mouse demonstrates that mitochondrial deficiency can result in autism endophenotypes

T Yardeni, AG Cristancho, AJ McCoy… - Proceedings of the …, 2021 - National Acad Sciences
Autism spectrum disorders (ASDs) are characterized by a deficit in social communication,
pathologic repetitive behaviors, restricted interests, and electroencephalogram (EEG) …

Interneuronopathies and their role in early life epilepsies and neurodevelopmental disorders

AM Katsarou, SL Moshé, AS Galanopoulou - Epilepsia open, 2017 - Wiley Online Library
GABA ergic interneurons control the neural circuitry and network activity in the brain. The
advances in genetics have identified genes that control the development, maturation, and …

Aged heterozygous Cdkl5 mutant mice exhibit spontaneous epileptic spasms

PJ Mulcahey, S Tang, H Takano, A White… - Experimental …, 2020 - Elsevier
CDKL5 deficiency disorder (CDD) is a devastating neurodevelopmental disorder
characterized by early-onset epilepsy, severe intellectual disability, cortical visual …

[HTML][HTML] Genes and brain malformations associated with abnormal neuron positioning

JJ Moffat, M Ka, EM Jung, WY Kim - Molecular brain, 2015 - Springer
Neuronal positioning is a fundamental process during brain development. Abnormalities in
this process cause several types of brain malformations and are linked to …

Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: a view from preclinical studies

AS Galanopoulou, SL Moshé - Neurobiology of disease, 2015 - Elsevier
Early onset and infantile epileptic encephalopathies (EIEEs) are usually associated with
medically intractable or difficult to treat epileptic seizures and prominent cognitive …

The terminal nerve plays a prominent role in GnRH-1 neuronal migration independent from proper olfactory and vomeronasal connections to the olfactory bulbs

EZM Taroc, A Prasad, JM Lin, PE Forni - Biology open, 2017 - journals.biologists.com
ABSTRACT Gonadotropin-releasing hormone-1 (GnRH-1) neurons (GnRH-1 ns) migrate
from the developing olfactory pit into the hypothalamus during embryonic development …

[HTML][HTML] X-linked cellular mosaicism underlies age-dependent occurrence of seizure-like events in mouse models of CDKL5 deficiency disorder

B Terzic, Y Cui, AC Edmondson, S Tang… - Neurobiology of …, 2021 - Elsevier
CDKL5 deficiency disorder (CDD) is an infantile, epileptic encephalopathy presenting with
early-onset seizures, intellectual disability, motor impairment, and autistic features. The …

[HTML][HTML] Developmental interneuron subtype deficits after targeted loss of Arx

ED Marsh, MLP Nasrallah, C Walsh, KA Murray… - BMC neuroscience, 2016 - Springer
Background Aristaless-related homeobox (ARX) is a paired-like homeodomain transcription
factor that functions primarily as a transcriptional repressor and has been implicated in …