Sample results46 results in the last year.
Brain somatic mosaicism in epilepsy: bringing results back to the clinic
Over the past decade, there has been tremendous progress in understanding brain
somatic mosaicism in epilepsy in the research setting. Access to resected brain
tissue samples from patients with medically refractory epilepsy undergoing epilepsy�…
somatic mosaicism in epilepsy in the research setting. Access to resected brain
tissue samples from patients with medically refractory epilepsy undergoing epilepsy�…
Structure and function in artificial, zebrafish and human neural networks
Network science provides a set of tools for the characterization of the structure and
functional behavior of complex systems. Yet a major problem is to quantify how the
structural domain is related to the dynamical one. In other words, how the diversity of�…
functional behavior of complex systems. Yet a major problem is to quantify how the
structural domain is related to the dynamical one. In other words, how the diversity of�…
Complexity in genetic epilepsies: a comprehensive review
Epilepsy is a highly prevalent neurological disorder, affecting between 5–8 per 1000
individuals and is associated with a lifetime risk of up to 3%. In addition to high
incidence, epilepsy is a highly heterogeneous disorder, with variation including, but�…
individuals and is associated with a lifetime risk of up to 3%. In addition to high
incidence, epilepsy is a highly heterogeneous disorder, with variation including, but�…
Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway
Clustering Epilepsy (CE) is a neurological disorder caused by pathogenic variants of
the Protocadherin 19 (PCDH19) gene. PCDH19 encodes a protein involved in cell
adhesion and Estrogen Receptor α mediated-gene regulation. To gain further�…
the Protocadherin 19 (PCDH19) gene. PCDH19 encodes a protein involved in cell
adhesion and Estrogen Receptor α mediated-gene regulation. To gain further�…
Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy
Clustering Epilepsy (CE) is an epileptic disorder with neurological comorbidities
caused by heterozygous variants of the X chromosome gene Protocadherin 19
(PCDH19). Recent studies have implicated dysregulation of the Nuclear Hormone�…
caused by heterozygous variants of the X chromosome gene Protocadherin 19
(PCDH19). Recent studies have implicated dysregulation of the Nuclear Hormone�…
Diverse clinical phenotypes of CASK-related disorders and multiple functional domains of CASK protein
CASK-related disorders are a form of rare X-linked neurological diseases and most
of the patients are females. They are characterized by several symptoms, including
microcephaly with pontine and cerebellar hypoplasia (MICPCH), epilepsy�…
of the patients are females. They are characterized by several symptoms, including
microcephaly with pontine and cerebellar hypoplasia (MICPCH), epilepsy�…
Phase 2, placebo-controlled clinical study of oral ganaxolone in PCDH19-clustering epilepsy
Abstract Introduction Protocadherin-19 (PCDH19)-clustering epilepsy is a distinct
developmental and epileptic encephalopathy characterized by early-onset seizures
that are often treatment refractory. Caused by a mutation of the PCDH19 gene on the�…
developmental and epileptic encephalopathy characterized by early-onset seizures
that are often treatment refractory. Caused by a mutation of the PCDH19 gene on the�…
Pcdh19 mediates olfactory sensory neuron coalescence during postnatal stages and regeneration
The mouse olfactory system regenerates constantly throughout life. While genes
critical for the initial projection of olfactory sensory neurons (OSNs) to the olfactory
bulb have been identified, what genes are important for maintaining the olfactory�…
critical for the initial projection of olfactory sensory neurons (OSNs) to the olfactory
bulb have been identified, what genes are important for maintaining the olfactory�…
Neuronal network activity and connectivity are impaired in a conditional knockout mouse model with PCDH19 mosaic expression
Mutations in PCDH19 gene, which encodes protocadherin-19 (PCDH19), cause
Developmental and Epileptic Encephalopathy 9 (DEE9). Heterogeneous loss of
PCDH19 expression in neurons is considered a key determinant of the disorder;�…
Developmental and Epileptic Encephalopathy 9 (DEE9). Heterogeneous loss of
PCDH19 expression in neurons is considered a key determinant of the disorder;�…
Genetic and clinical landscape of ARR3-associated MYP26: the most common cause of Mendelian early-onset high myopia with a unique inheritance
Aims To elucidate genetic background of early-onset high myopia (eoHM) and
characteristics of ARR3-associated MYP26. Methods Variants in 14 genes reported
to contribute to eoHM, including ARR3, were selected from exome sequencing data�…
characteristics of ARR3-associated MYP26. Methods Variants in 14 genes reported
to contribute to eoHM, including ARR3, were selected from exome sequencing data�…