The genetic basis of cerebral palsy

MC Fahey, AH Maclennan… - … Medicine & Child …, 2017 - Wiley Online Library
Although prematurity and hypoxic–ischaemic injury are well‐recognized contributors to the
pathogenesis of cerebral palsy (CP), as many as one‐third of children with CP may lack …

Insights from genetic studies of cerebral palsy

SA Lewis, S Shetty, BA Wilson, AJ Huang… - Frontiers in …, 2021 - frontiersin.org
Cohort-based whole exome and whole genome sequencing and copy number variant
(CNV) studies have identified genetic etiologies for a sizable proportion of patients with …

[HTML][HTML] Cerebral palsy: causes, pathways, and the role of genetic variants

AH MacLennan, SC Thompson, J Gecz - American journal of obstetrics and …, 2015 - Elsevier
Cerebral palsy (CP) is heterogeneous with different clinical types, comorbidities, brain
imaging patterns, causes, and now also heterogeneous underlying genetic variants. Few …

In-depth analysis reveals complex molecular aetiology in a cohort of idiopathic cerebral palsy

N Li, P Zhou, H Tang, L He, X Fang, J Zhao, X Wang… - Brain, 2022 - academic.oup.com
Cerebral palsy is the most prevalent physical disability in children; however, its inherent
molecular mechanisms remain unclear. In the present study, we performed in-depth clinical …

Genomic analysis identifies masqueraders of full‐term cerebral palsy

Y Takezawa, A Kikuchi, K Haginoya… - Annals of Clinical …, 2018 - Wiley Online Library
Objective Cerebral palsy is a common, heterogeneous neurodevelopmental disorder that
causes movement and postural disabilities. Recent studies have suggested genetic …

Cerebral palsy: diagnosis, epidemiology, genetics, and clinical update

A Michael-Asalu, G Taylor… - Advances in …, 2019 - advancesinpediatrics.com
DIAGNOSIS OF CEREBRAL PALSY The diagnosis of CP relies on a combination of
neurologic assessment, neuroimaging findings, and recognition of clinical risk factors …

Genetic or other causation should not change the clinical diagnosis of cerebral palsy

AH MacLennan, S Lewis… - Journal of child …, 2019 - journals.sagepub.com
High throughput sequencing is discovering many likely causative genetic variants in
individuals with cerebral palsy. Some investigators have suggested that this changes the …

Genetic insights into the causes and classification of the cerebral palsies

A Moreno-De-Luca, DH Ledbetter, CL Martin - The lancet neurology, 2012 - thelancet.com
Cerebral palsy—the most common physical disability of childhood—is a clinical diagnosis
encompassing a heterogeneous group of neurodevelopmental disorders that cause …

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy

DL Fehlings, M Zarrei, W Engchuan, N Sondheimer… - Nature Genetics, 2024 - nature.com
We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP)
and their biological parents. We classified 37 of 327 (11.3%) children as having …

De novo point mutations in patients diagnosed with ataxic cerebral palsy

R Parolin Schnekenberg, EM Perkins, JW Miller… - Brain, 2015 - academic.oup.com
Cerebral palsy is a sporadic disorder with multiple likely aetiologies, but frequently
considered to be caused by birth asphyxia. Genetic investigations are rarely performed in …