Molecular diagnostic yield of exome sequencing and chromosomal microarray in cerebral palsy: a systematic review and meta-analysis

S Srivastava, SA Lewis, JS Cohen, B Zhang… - JAMA …, 2022 - jamanetwork.com
Importance There are many known acquired risk factors for cerebral palsy (CP), but in some
cases, CP is evident without risk factors (cryptogenic CP). Early CP cohort studies report a …

Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology

CL van Eyk, MC Fahey, J Gecz - Nature Reviews Neurology, 2023 - nature.com
Cerebral palsy is a clinical descriptor covering a diverse group of permanent, non-
degenerative disorders of motor function. Around one-third of cases have now been shown …

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 …

Diagnostic yield of exome sequencing in cerebral palsy and implications for genetic testing guidelines: a systematic review and meta-analysis

PJ Gonzalez-Mantilla, Y Hu, SM Myers… - JAMA …, 2023 - jamanetwork.com
Importance Exome sequencing is a first-tier diagnostic test for individuals with
neurodevelopmental disorders, including intellectual disability/developmental delay and …

[HTML][HTML] Cerebral palsy and related neuromotor disorders: Overview of genetic and genomic studies

JM Friedman, P van Essen… - Molecular genetics and …, 2022 - Elsevier
Cerebral palsy (CP) is a debilitating condition characterized by abnormal movement or
posture, beginning early in development. Early family and twin studies and more recent …

[HTML][HTML] Mapping neurodevelopment with sleep macro-and micro-architecture across multiple pediatric populations

N Kozhemiako, AW Buckley, RD Chervin, S Redline… - NeuroImage: Clinical, 2024 - Elsevier
Profiles of sleep duration and timing and corresponding electroencephalographic activity
reflect brain changes that support cognitive and behavioral maturation and may provide …

Genetic spectrum identified by exome sequencing in a Chinese pediatric cerebral palsy cohort

H Mei, L Yang, T Xiao, S Wang, B Wu, H Wang… - The Journal of …, 2022 - Elsevier
Objective To explore the genetic spectrum of cerebral palsy (CP) in a Chinese pediatric
cohort. Study design This was a retrospective observational study of patients with CP from …

IFIH1 variants are associated with generalised epilepsy preceded by febrile seizures

W Song, WJ Bian, H Li, QH Guo, J Wang… - Journal of Medical …, 2024 - jmg.bmj.com
Background IFIH1 variants have been reported to be associated with immune-related
disorders with/without seizures. It is unknown whether IFIH1 variants are associated with …

Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review

YA Wilson, N Garrity… - Journal of Child …, 2024 - journals.sagepub.com
A growing number of genes have been identified in individuals with cerebral palsy (CP);
however, many of these studies have poor compliance with the cerebral palsy clinical …

Dominant KPNA3 Mutations Cause Infantile‐Onset Hereditary Spastic Paraplegia

C Schob, M Hempel, D Safka Brozkova… - Annals of …, 2021 - Wiley Online Library
Objective Hereditary spastic paraplegia (HSP) is a highly heterogeneous neurologic
disorder characterized by lower‐extremity spasticity. Here, we set out to determine the …