Journal article

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations

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

EUROPEAN JOURNAL OF MEDICAL GENETICS | ELSEVIER | Published : 2017

Abstract

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 of varying severity with a Lennox-Gastaut phenotype, and complex eye abnormalities where a syndromic diagnosis was not initially made. Whole exome sequencing of two affected sisters followed by filtering for rare and potentially disease causing variants in all genes identified compo..

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Grants

Awarded by NHMRC program


Awarded by NHMRC Research Fellowships


Awarded by NHMRC Practitioner Fellowship


Funding Acknowledgements

We wish to thank the family involved in this study for their kind participation in our research program. We are grateful to eResearchSA for computing infrastructure support. This project was supported by: NHMRC program grants 628952 (SB, JG, IS) and 1054618 (MB), NHMRC Research Fellowships 1041920 (JG) and 1002098 (MB); NHMRC Practitioner Fellowship 1104831 (IES), WCH foundation MS McLeod research fellowship (MC).