Human organoids: model systems for human biology and medicine

J Kim, BK Koo, JA Knoblich - Nature Reviews Molecular Cell Biology, 2020 - nature.com
The historical reliance of biological research on the use of animal models has sometimes
made it challenging to address questions that are specific to the understanding of human …

Definitions and classification of malformations of cortical development: practical guidelines

M Severino, AF Geraldo, N Utz, D Tortora, I Pogledic… - Brain, 2020 - academic.oup.com
Malformations of cortical development are a group of rare disorders commonly manifesting
with developmental delay, cerebral palsy or seizures. The neurological outcome is …

Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

R Guerrini, V Conti, M Mantegazza… - Physiological …, 2023 - journals.physiology.org
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

[PDF][PDF] Expression analysis highlights AXL as a candidate Zika virus entry receptor in neural stem cells

TJ Nowakowski, AA Pollen, E Di Lullo… - Cell stem cell, 2016 - cell.com
The recent outbreak of Zika virus (ZIKV) in Brazil has been linked to substantial increases in
fetal abnormalities and microcephaly. However, information about the underlying molecular …

Эпилепсия у детей и взрослых женщин и мужчин

ВА Карлов - 2019 - elibrary.ru
В руководстве представлены результаты 60-летней работы автора в области детской
и взрослой неврологии и эпилептологии. Впервые эпилептология представлена в …

The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc task force of the ILAE Diagnostic Methods Commission 1

I Blümcke, M Thom, E Aronica, DD Armstrong… - 2011 - Wiley Online Library
Purpose: Focal cortical dysplasias (FCD) are localized regions of malformed cerebral cortex
and are very frequently associated with epilepsy in both children and adults. A broad …

[HTML][HTML] Physical biology of human brain development

S Budday, P Steinmann, E Kuhl - Frontiers in cellular neuroscience, 2015 - frontiersin.org
Neurodevelopment is a complex, dynamic process that involves a precisely orchestrated
sequence of genetic, environmental, biochemical, and physical events. Developmental …

Deconstructing cortical folding: genetic, cellular and mechanical determinants

C Llinares-Benadero, V Borrell - Nature Reviews Neuroscience, 2019 - nature.com
Folding of the cerebral cortex is a fundamental milestone of mammalian brain evolution and
is associated with dramatic increases in size and complexity. New animal models, genetic …

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

JH Lee, M Huynh, JL Silhavy, S Kim, T Dixon-Salazar… - Nature …, 2012 - nature.com
De novo somatic mutations in focal areas are well documented in diseases such as
neoplasia but are rarely reported in malformation of the developing brain …

[HTML][HTML] Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease

E Karaca, T Harel, D Pehlivan, SN Jhangiani… - Neuron, 2015 - cell.com
Development of the human nervous system involves complex interactions among
fundamental cellular processes and requires a multitude of genes, many of which remain to …