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Article

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.

European journal of medical genetics - 1 Aug 2017

Corbett Mark A, Turner Samantha J, Gardner Alison, Silver Jeremy, Stankovich Jim, Leventer Richard J, Derry Christopher P, Carroll Renée, Ha Thuong, Scheffer Ingrid E, Bahlo Melanie, Jackson Graeme D, Mackey David A, Berkovic Samuel F, Gecz Jozef

Abstract excerpt

Knobloch syndrome [OMIM: (KNO1) #267750] is a rare and clinically heterogeneous autosomal recessive disorder caused by mutations in COL18A1. Knobloch syndrome is characterised by abnormalities of the eye and occipital skull defects however the full phenotypic spectrum is yet to be defined. This report describes a family of four affected sisters with polymicrogyria, refractory seizures, and intellectual impairment...

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PMID: 28602933
DOI: 10.1016/j.ejmg.2017.06.002

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Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.PMID 28602933Read ↗

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Brain malformations associated with Knobloch syndrome--review of literature, expanding clinical spectrum, and identification of novel mutations.Semantic proximity Read ↗

Molecular and Clinical Findings in Patients With Knobloch Syndrome.Semantic proximity Read ↗

Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report.Semantic proximity Read ↗

Knobloch syndrome in a patient from Chile.Semantic proximity Read ↗

Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children.Semantic proximity Read ↗

Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.Semantic proximity Read ↗

Mutations in the COL18A1 gen associated with knobloch syndrome and structural brain anomalies: a novel case report and literature review of neuroimaging findings.Semantic proximity Read ↗

Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch SyndromeSemantic proximity Read ↗

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