Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

Bronwyn E Grinton; Sarah E Heron; James T Pelekanos; Sameer M Zuberi; Sara Kivity; Zaid Afawi; Tristiana C Williams; Dan M Casalaz; Simone Yendle; Ilan Linder; Dorit Lev; Tally Lerman-Sagie; Stephen Malone; Haim Bassan; Hadassa Goldberg-Stern; Thorsten Stanley; Michael Hayman; Sophie Calvert; Amos D Korczyn; Michael Shevell; Ingrid E Scheffer; John C Mulley; Samuel F Berkovic

Journal article

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

Bronwyn E Grinton, Sarah E Heron, James T Pelekanos, Sameer M Zuberi, Sara Kivity, Zaid Afawi, Tristiana C Williams, Dan M Casalaz, Simone Yendle, Ilan Linder, Dorit Lev, Tally Lerman-Sagie, Stephen Malone, Haim Bassan, Hadassa Goldberg-Stern, Thorsten Stanley, Michael Hayman, Sophie Calvert, Amos D Korczyn, Michael Shevell Show all

EPILEPSIA | WILEY-BLACKWELL | Published : 2015

DOI: 10.1111/epi.13020

Abstract

OBJECTIVE: We evaluated seizure outcome in a large cohort of familial neonatal seizures (FNS), and examined phenotypic overlap with different molecular lesions. METHODS: Detailed clinical data were collected from 36 families comprising two or more individuals with neonatal seizures. The seizure course and occurrence of seizures later in life were analyzed. Families were screened for KCNQ2, KCNQ3, SCN2A, and PRRT2 mutations, and linkage studies were performed in mutation-negative families to exclude known loci. RESULTS: Thirty-three families fulfilled clinical criteria for benign familial neonatal epilepsy (BFNE); 27 of these families had KCNQ2 mutations, one had a KCNQ3 mutation, and two had..

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University of Melbourne Researchers

Saul Mullen Author Medical Education

Ingrid Scheffer Author Medicine - Austin Health

Bronwyn Grinton Author Medicine - Austin Health

Sam Berkovic Author Medicine - Austin Health

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Grants

Awarded by National Health and Medical Research Council of Australia

Funding Acknowledgements

This work was supported by the National Health and Medical Research Council of Australia (Program Grant 628952 to S.F.B. and I.E.S., Australia Fellowship 466671 to S.F.B., Practitioner Fellowship 1006110 to I.E.S., and Training Fellowship 1016715 to S.E.H.), and SA Pathology. We thank the patients and their families for participating in our research. We also thank Prof Greg Holmes, Prof Robert Ouvrier, Prof Mac Gardner, Dr Jeremy Freeman, and Dr John Lawson for referring patients and providing clinical data.