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Article

Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1.

Pediatric neurology - 1 Nov 2017

Charsar Brittany A, Goldberg Ethan M

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Identifiers

PMID: 28950998
DOI: 10.1016/j.pediatrneurol.2017.08.003
PMCID: PMC5679277

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Polymicrogyria and Intractable Epilepsy in Siblings With Knobloch Syndrome and Homozygous Mutation of COL18A1.PMID 28950998Read ↗

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations.Semantic proximity Read ↗

CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene.Semantic proximity Read ↗

‘‘Genomic Insights into Knobloch Syndrome: A Meta-Analytical Perspective’’Semantic proximity Read ↗

Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities.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 ↗

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

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

Three cases of molecularly confirmed Knobloch syndrome.Semantic proximity Read ↗

Whole genome sequencing in a Knobloch syndrome family confirms the molecular diagnosis.Semantic proximity Read ↗

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

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

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

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