Journal article

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

Ingrid E Scheffer, Bronwyn E Grinton, Sarah E Heron, Sara Kivity, Zaid Afawi, Xenia Iona, Hadassa Goldberg-Stern, Maria Kinali, Ian Andrews, Renzo Guerrini, Carla Marini, Lynette G Sadleir, Samuel F Berkovic, Leanne M Dibbens

NEUROLOGY | LIPPINCOTT WILLIAMS & WILKINS | Published : 2012

Abstract

OBJECTIVE: Benign familial infantile epilepsy (BFIE) is an autosomal dominant epilepsy syndrome characterized by afebrile seizures beginning at about 6 months of age. Mutations in PRRT2, encoding the proline-rich transmembrane protein 2 gene, have recently been identified in the majority of families with BFIE and the associated syndrome of infantile convulsions and choreoathetosis (ICCA). We asked whether the phenotypic spectrum of PRRT2 was broader than initially recognized by studying patients with sporadic benign infantile seizures and non-BFIE familial infantile seizures for PRRT2 mutations. METHODS: Forty-four probands with infantile-onset seizures, infantile convulsions with mild gastr..

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Grants

Awarded by National Health and Medical Research Council of Australia


Awarded by Australia Fellowship


Awarded by Practitioner Fellowship


Awarded by Training Fellowship


Funding Acknowledgements

Supported by the National Health and Medical Research Council of Australia (program grant 628952 to S.F.B., I.E.S., and L.M.D., 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. L.M.D. is an MS McLeod Research Fellow.I.E. Scheffer has served on scientific advisory boards for UCB and Janssen-Cilag EMEA; may accrue future revenue on a pending patent WO61/010176: Therapeutic compound that relates to discovery of PCDH19 gene as the cause of familial epilepsy with mental retardation limited to females; has received speaker honoraria and funding for travel from Athena Diagnostics, Biocodex, GlaxoSmithKline, Janssen-Cilag EMEA, and UCB, and receives/has received research support from the National Health and Medical Research Council of Australia, NIH, Australian Research Council, Health Research Council of New Zealand, The University of Melbourne, American Epilepsy Society, the Jack Brockhoff Foundation, the Shepherd Foundation, and the Perpetual Charitable Trustees. B.E. Grinton, S.E. Heron, S. Kivity, Z. Afawi, X. Iona, H. Goldberg-Stern, M. Kinali, I. Andrews, C. Marini, and L. Sadleir report no disclosures. S. Berkovic has served on scientific advisory boards for UCB and Janssen-Cilag; may accrue future revenue on pending patent WO61/010176: Therapeutic compound that relates to discovery of PCDH19 gene as the cause of familial epilepsy with mental retardation limited to females; is one of the inventors listed on a patent held by Bionomics Inc on diagnostic testing of using the SCN1A gene, international publication number WO2006/133508, filed 16/06/2006; has received speaker honoraria from UCB; has received unrestricted educational grants from UCB, Janssen-Cilag, and Sanofi-Aventis; and receives/has received research support from the National Health and Medical Research Council of Australia and National Institute of Neurological Disorders and Stroke. L. Dibbens may accrue future revenue on a pending patent WO61/010176: Therapeutic compound that relates to discovery of PCDH19 gene as the cause of familial epilepsy with mental retardation limited to females. Go to Neurology.org for full disclosures.