Developmental and epileptic encephalopathies: what we do and do not know

N Specchio, P Curatolo - Brain, 2021 - academic.oup.com
Developmental encephalopathies, including intellectual disability and autistic spectrum
disorder, are frequently associated with infant epilepsy. Epileptic encephalopathy is used to …

ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions

SM Zuberi, E Wirrell, E Yozawitz, JM Wilmshurst… - …, 2022 - Wiley Online Library
Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …

Alterations in GABAA-Receptor Trafficking and Synaptic Dysfunction in Brain Disorders

M Mele, RO Costa, CB Duarte - Frontiers in cellular neuroscience, 2019 - frontiersin.org
GABAA receptors (GABAAR) are the major players in fast inhibitory neurotransmission in the
central nervous system (CNS). Regulation of GABAAR trafficking and the control of their …

Integrative structural, functional, and transcriptomic analyses of sex-biased brain organization in humans

S Liu, J Seidlitz, JD Blumenthal, LS Clasen… - Proceedings of the …, 2020 - pnas.org
Humans display reproducible sex differences in cognition and behavior, which may partly
reflect intrinsic sex differences in regional brain organization. However, the consistency …

Rates of status epilepticus and sudden unexplained death in epilepsy in people with genetic developmental and epileptic encephalopathies

AM Donnan, AL Schneider, S Russ-Hall, L Churilov… - Neurology, 2023 - neurology.org
Background and Objectives The genetic developmental and epileptic encephalopathies
(DEEs) comprise a large group of severe epilepsy syndromes, with a wide phenotypic …

Female-specific synaptic dysfunction and cognitive impairment in a mouse model of PCDH19 disorder

N Hoshina, EM Johnson-Venkatesh, M Hoshina… - Science, 2021 - science.org
INTRODUCTION Mutations of the X-linked Protocadherin-19 (PCDH19) gene cause
PCDH19 disorder with epilepsy. PCDH19 disorder is often associated with cognitive …

[HTML][HTML] Deriving early single-rosette brain organoids from human pluripotent stem cells

AM Tidball, W Niu, Q Ma, TN Takla, JC Walker… - Stem Cell Reports, 2023 - cell.com
Brain organoid methods are complicated by multiple rosette structures and morphological
variability. We have developed a human brain organoid technique that generates self …

Proteomic analysis of the develo** mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway

R de Nys, A Gardner, C van Eyk… - Molecular …, 2024 - nature.com
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 …

Fundamental Neurochemistry Review: GABAA receptor neurotransmission and epilepsy: Principles, disease mechanisms and pharmacotherapy

A Bryson, C Reid, S Petrou - Journal of Neurochemistry, 2023 - Wiley Online Library
Epilepsy is a common neurological disorder associated with alterations of excitation‐
inhibition balance within brain neuronal networks. GABAA receptor neurotransmission is the …

PCDH19-related epilepsy syndrome: a comprehensive clinical review

D Samanta - Pediatric neurology, 2020 - Elsevier
PCDH19-related epilepsy is a distinct childhood-onset epilepsy syndrome characterized by
brief clusters of febrile and afebrile seizures with onset primarily before the age of three …