Journal article

Multiplex families with epilepsy Success of clinical and molecular genetic characterization

Zaid Afawi, Karen L Oliver, Sara Kivity, Aziz Mazarib, Ilan Blatt, Miriam Y Neufeld, Katherine L Helbig, Hadassa Goldberg-Stern, Adel J Misk, Rachel Straussberg, Simri Walid, Muhammad Mahajnah, Tally Lerman-Sagie, Bruria Ben-Zeev, Esther Kahana, Rafik Masalha, Uri Kramer, Dana Ekstein, Zamir Shorer, Robyn H Wallace Show all

NEUROLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2016

Abstract

OBJECTIVE: To analyze the clinical syndromes and inheritance patterns of multiplex families with epilepsy toward the ultimate aim of uncovering the underlying molecular genetic basis. METHODS: Following the referral of families with 2 or more relatives with epilepsy, individuals were classified into epilepsy syndromes. Families were classified into syndromes where at least 2 family members had a specific diagnosis. Pedigrees were analyzed and molecular genetic studies were performed as appropriate. RESULTS: A total of 211 families were ascertained over an 11-year period in Israel. A total of 169 were classified into broad familial epilepsy syndrome groups: 61 generalized, 22 focal, 24 febril..

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Grants

Awarded by NHMRC


Awarded by Australian Research Council


Awarded by NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE


Funding Acknowledgements

This project was supported by International Science Linkages established under the Australian Government's innovation statement, Backing Australia's Ability, during 2007/2008. S.F.B., I.E.S., J.G., and L.M.D. were supported by an NHMRC Program Grant (ID: 628952). M.B. was supported by Victorian State Government Operational Infrastructure Support and Australian Government NHMRC IRIISS funding to her institute and by an Australian Research Council Future Fellowship (FT100100764).