Fetal brain development: regulating processes and related malformations

Z Leibovitz, T Lerman-Sagie, L Haddad - Life, 2022 - mdpi.com
This paper describes the contemporary state of knowledge regarding processes that
regulate normal development of the embryonic–fetal central nervous system (CNS). The …

14‐3‐3 Family of Proteins: Biological Implications, Molecular Interactions, and Potential Intervention in Cancer, Virus and Neurodegeneration Disorders

ZY Low, AJW Yip, AML Chan… - Journal of Cellular …, 2024 - Wiley Online Library
ABSTRACT The 14‐3‐3 family of proteins are highly conserved acidic eukaryotic proteins
(25–32 kDa) abundantly present in the body. Through numerous binding partners, the 14‐3 …

Lissencephaly in an epilepsy cohort: Molecular, radiological and clinical aspects

S Kolbjer, DA Martin, M Pettersson, M Dahlin… - European Journal of …, 2021 - Elsevier
Introduction Lissencephaly is a rare malformation of cortical development due to abnormal
transmantle migration resulting in absent or reduced gyration. The lissencephaly spectrum …

Cyclin-dependent kinases and rare developmental disorders

P Colas - Orphanet Journal of Rare Diseases, 2020 - Springer
Extensive studies in the past 30 years have established that cyclin-dependent kinases
(CDKs) exert many diverse, important functions in a number of molecular and cellular …

Bi-allelic pathogenic variants in TUBGCP2 cause microcephaly and lissencephaly spectrum disorders

T Mitani, J Punetha, I Akalin, D Pehlivan… - The American Journal of …, 2019 - cell.com
Lissencephaly comprises a spectrum of malformations of cortical development. This
spectrum includes agyria, pachygyria, and subcortical band heterotopia; each represents …

Antenatal counselling for prospective parents whose fetus has a neurological anomaly: part 2, risks of adverse outcome in common anomalies

AR Hart, C Vasudevan, PD Griffiths… - … Medicine & Child …, 2022 - Wiley Online Library
After diagnosis of a fetal neurological anomaly, prospective parents want to know the best
and worst‐case scenarios and an estimation of the risk to their infant of having an atypical …

[HTML][HTML] Embryology, central nervous system, malformations

A Rewane, S Munakomi - StatPearls [Internet], 2023 - ncbi.nlm.nih.gov
The central nervous system (CNS) is composed of the brain and the spinal cord. They both
develop from the embryonic ectoderm alongside other structures like the skin. Their …

Imaging phenotype correlation with molecular and molecular pathway defects in malformations of cortical development

CVA Guimaraes, HM Dahmoush - Pediatric Radiology, 2020 - Springer
The increase in understanding of molecular biology and recent advances in genetic testing
have caused rapid growth in knowledge of genetic causes of malformations of cortical …

Clinical implementation of targeted gene sequencing for malformation of cortical development

S Lee, SH Kim, B Kim, ST Lee, JR Choi, HD Kim… - Pediatric Neurology, 2020 - Elsevier
Background Malformations of cortical development comprise phenotypically heterogeneous
conditions, and the diagnostic value of genetic testing in blood still remains to be elucidated …

[HTML][HTML] Lissencephaly

ML Kattuoa - 2020 - europepmc.org
Objectives: Identify the etiology of lissencephaly. Describe the evaluation of lissencephaly.
Outline the management options available for lissencephaly. Summarize interprofessional …