Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability
Lewis SA, Bakhtiari S, Heim J, Cornejo P, Liu J, Huang A, Musmacker A, Jin SC, Bilguvar K, Padilla-Lopez SR, Kruer MC. Mutation in ZDHHC15 Leads to Hypotonic Cerebral Palsy, Autism, Epilepsy, and Intellectual Disability. Neurology Genetics 2021, 7: e602. PMID: 34345675, PMCID: PMC8323736, DOI: 10.1212/nxg.0000000000000602.Peer-Reviewed Original ResearchHypotonic cerebral palsyCerebral palsyIntellectual disabilityOvoid lesionsMotor dysfunctionRare causeCerebral volumeTall foreheadDental crowdingMuscle hypotoniaNeurodevelopmental disabilitiesArched palateAnimal modelsPalpebral fissuresMild brachycephalyFunction genotypeNeurodevelopmental disordersPatient variantsPalsyPatientsEpilepsyLocomotor defectsFunction mutationsCandidate variantsDisabilityRecessive 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