'North Sea' progressive myoclonus epilepsy: Phenotype of subjects with GOSR2 mutation

L Boissé Lomax; MA Bayly; H Hjalgrim; RS Møller; AM Vlaar; KM Aaberg; I Marquardt; LC Gandolfo; M Willemsen; EJ Kamsteeg; JD O'Sullivan; GC Korenke; BR Bloem; IF De Coo; JMA Verhagen; I Said; T Prescott; A Stray-Pedersen; M Rasmussen; DF Vears; AE Lehesjoki; MA Corbett; M Bahlo; J Gecz; LM Dibbens; SF Berkovic

Journal article

'North Sea' progressive myoclonus epilepsy: Phenotype of subjects with GOSR2 mutation

L Boissé Lomax, MA Bayly, H Hjalgrim, RS Møller, AM Vlaar, KM Aaberg, I Marquardt, LC Gandolfo, M Willemsen, EJ Kamsteeg, JD O'Sullivan, GC Korenke, BR Bloem, IF De Coo, JMA Verhagen, I Said, T Prescott, A Stray-Pedersen, M Rasmussen, DF Vears Show all

Brain | OXFORD UNIV PRESS | Published : 2013

DOI: 10.1093/brain/awt021

Abstract

We previously identified a homozygous mutation in the Golgi SNAP receptor complex 2 gene (GOSR2) in six patients with progressive myoclonus epilepsy. To define the syndrome better we analysed the clinical and electrophysiological phenotype in 12 patients with GOSR2 mutations, including six new unrelated subjects. Clinical presentation was remarkably similar with early onset ataxia (average 2 years of age), followed by myoclonic seizures at the average age of 6.5 years. Patients developed multiple seizure types, including generalized tonic clonic seizures, absence seizures and drop attacks. All patients developed scoliosis by adolescence, making this an important diagnostic clue. Additional s..

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University of Melbourne Researchers

Related Projects (3)

NHMRC Australia Fellowship

I aim to cement my place as the leading clinical and translational researcher in epilepsy internationally. My research and that of my wider ..

EPILEPSY: A 'PATIENT TO BENCH AND BACK TO PATIENT' PROGRAM ABOUT UNDERSTANDING THE CAUSES OF SEIZURE DISORDERS.

The team is comprised of neurologists, molecular geneticists, physiologists and brain imaging specialists and leads the world in the discove..

EPILEPSY: A 'PATIENT TO BENCH AND BACK TO PATIENT' PROGRAM ABOUT UNDERSTANDING THE CAUSES OF SEIZURE DISORDERS.

The team is comprised of neurologists, molecular geneticists, physiologists and brain imaging specialists and leads the world in the discove..

Grants

Awarded by Royal College of Physicians and Surgeons of Canada

Funding Acknowledgements

This work was supported by a National Health and Medical Research Council grant to SB (Program Grant ID: 628952). Fellowship funding for LBL was provided by the Detweiler Travelling Fellowship (Royal College of Physicians and Surgeons of Canada) and by the Cecil Patience Reid Fellowship (Queen's University, Kingston, ON, Canada).