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Article

Mendelian etiologies identified with whole exome sequencing in cerebral palsy.

Annals of clinical and translational neurology - 1 Feb 2022

Chopra Maya, Gable Dustin L, Love-Nichols Jamie, Tsao Alexa, Rockowitz Shira, Sliz Piotr, Barkoudah Elizabeth, Bastianelli Lucia, Coulter David, Davidson Emily, DeGusmao Claudio, Fogelman David, Huth Kathleen, Marshall Paige, Nimec Donna, Sanders Jessica Solomon, Shore Benjamin J, Snyder Brian, Stone Scellig S D, Ubeda Ana, Watkins Colyn, Berde Charles, Bolton Jeffrey, Brownstein Catherine, Costigan Michael, Ebrahimi-Fakhari Darius, Lai Abbe, O'Donnell-Luria Anne, Paciorkowski Alex R, Pinto Anna, Pugh John, Rodan Lance, Roe Eugene, Swanson Lindsay, Zhang Bo, Kruer Michael C, Sahin Mustafa, Poduri Annapurna, Srivastava Siddharth

Abstract excerpt

OBJECTIVES: Cerebral palsy (CP) is the most common childhood motor disability, yet its link to single-gene disorders is under-characterized. To explore the genetic landscape of CP, we conducted whole exome sequencing (WES) in a cohort of patients with CP. METHODS: We performed comprehensive phenotyping and WES on a prospective cohort of individuals with cryptogenic CP (who meet criteria for CP; have no risk...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 35076175
DOI: 10.1002/acn3.51506
PMCID: PMC8862420

Genes

CP
ACADM
PDHX
SPAST
ADAT3
ATL1
COL4A1
ECHS1
GNAO1
POLR2A
SATB2
SLC16A2
THOC2
ZMYM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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