Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy
Bakhtiari S, Tafakhori A, Jin SC, Guida BS, Alehabib E, Firouzbadi S, Bilguvar K, Fahey MC, Darvish H, Kruer MC. Recessive COL4A2 Mutation Leads to Intellectual Disability, Epilepsy, and Spastic Cerebral Palsy. Neurology Genetics 2021, 7: e583. PMID: 33912663, PMCID: PMC8077768, DOI: 10.1212/nxg.0000000000000583.Peer-Reviewed Original ResearchCerebral palsySpastic cerebral palsyCortical visual impairmentBasement membrane thickeningStroke-related complicationsWhite matter diseaseIntellectual disabilityEarly fetal developmentCerebral calcificationsHemorrhagic strokeAutosomal dominant fashionMembrane thickeningPostnatal periodFunction effectsCOL4A2 mutationsFetal developmentClinical diagnosisVisual impairmentPalsyEpilepsyDiseaseDominant fashionGenes COL4A1Muscular systemDisability