Media Releases

U of T part of international effort identifying gene linked to epilepsy

August 30, 2010

TORONTO, ON — Researchers from the Uni­ver­si­ty of Toron­to are part of an inter­na­tion­al team which has iden­ti­fied the gene caus­ing the child­hood form of epilep­sy known as Mabry Syn­drome.

In an arti­cle pub­lished Aug. 30, 2010 in the jour­nal Nature Genet­ics enti­tled ‘Iden­ti­ty-by-Descent Fil­ter­ing of Exome Sequence Data iden­ti­fies PIGV muta­tions in Hyper­phos­phata­sia Men­tal Retar­da­tion syn­drome (HPMR),’ an inter­na­tion­al team includ­ing Dr. Miles Thomp­son and Dr. David Cole detail how they iden­ti­fied that muta­tions in the PIGV gene are often asso­ci­at­ed with Mabry Syn­drome — a rare genet­ic dis­or­der which results in devel­op­men­tal delay and seizures.

“Iden­ti­fy­ing the gene respon­si­ble is a key ele­ment in diag­nos­ing Mabry Syn­drome. While we are look­ing for oth­er genes involved, it remains an impor­tant step toward improv­ing treat­ments,” said Dr. Thomp­son (Depart­ment of Lab­o­ra­to­ry Med­i­cine and Patho­bi­ol­o­gy, Bant­i­ng Insti­tute, Uni­ver­si­ty of Toron­to, Cana­da).

Along with Dr. David Cole, Sun­ny­brook Health Sci­ences Cen­tre, Dr. Mar­jan Nezarati at North York Gen­er­al Hos­pi­tal in Toron­to and researchers in Ger­many, the Nether­lands and France, Dr. Thomp­son coor­di­nat­ed the Cana­di­an por­tion of the project – which used homozy­gos­i­ty map­ping, exome sequenc­ing and a can­di­date gene approach to iden­ti­fy the role of the PIGV gene in cas­es of Mabry syn­drome.

The dis­cov­ery of the gene builds on research pub­lished in the July 2010 edi­tion of the Amer­i­can Jour­nal of Med­ical Genet­ics by Dr. Thomp­son, Dr. Mar­jan Nezarati, Dr. David Cole and col­leagues, which defined the syn­drome for the first time and allowed the iden­ti­fi­ca­tion of the gene for the dis­or­der, which will now allow bet­ter diag­no­sis of the con­di­tion — and ulti­mate­ly bet­ter treat­ment for patients and their fam­i­lies.

Dr. Thompson’s con­tri­bu­tion to the dis­cov­ery report­ed in Nature Genet­ics is the result of four years of research work made pos­si­ble by finan­cial sup­port from Epilep­sy Cana­da, and he will be a recip­i­ent of a spe­cial award from the organization’s pres­i­dent, Don Weaver, on Aug. 31 at a pub­lic Epilep­sy Cana­da meet­ing. For more infor­ma­tion on the event, see