US 12,331,358 B2
Gene and mutations thereof associated with seizure and movement disorders
Sarah Elizabeth Heron, Highbury (AU); Leanne Michelle Dibbens, College Park (AU); Samuel Frank Berkovic, Melbourne (AU); Ingrid Eileen Scheffer, Melbourne (AU); and John Charles Mulley, Firle (AU)
Assigned to The University of Melbourne, Victoria (AU); Central Adelaide Local Health Network Incorporated, Adelaide (AU); and Itek Ventures PTY Ltd (University of South Australia), Salisbury South (AU)
Filed by ITEK VENTURES PTY LTD, Salisbury South (AU); The University of Melbourne, Victoria (AU); and Central Adelaide Local Health Network Incorporated, Adelaide (AU)
Filed on Oct. 17, 2022, as Appl. No. 17/967,277.
Application 17/967,277 is a division of application No. 15/663,629, filed on Jul. 28, 2017, granted, now 11,473,143.
Application 15/663,629 is a continuation of application No. 14/354,461, granted, now 9,752,193, previously published as PCT/AU2012/001321, filed on Oct. 29, 2012.
Claims priority of application No. 2011904493 (AU), filed on Oct. 28, 2011; and application No. 2012900190 (AU), filed on Jan. 18, 2012.
Prior Publication US 2023/0193389 A1, Jun. 22, 2023
This patent is subject to a terminal disclaimer.
Int. Cl. C12Q 1/6883 (2018.01); C07K 14/47 (2006.01); C07K 14/705 (2006.01); C07K 16/18 (2006.01); G01N 27/447 (2006.01)
CPC C12Q 1/6883 (2013.01) [C07K 14/47 (2013.01); C07K 14/705 (2013.01); C07K 16/18 (2013.01); G01N 27/447 (2013.01); C12Q 2600/118 (2013.01); C12Q 2600/136 (2013.01); C12Q 2600/156 (2013.01)] 11 Claims
 
1. A nucleic acid probe comprising a fragment of a PRRT2 sequence or the complement thereof, wherein the PRRT2 sequence has the sequence of SEQ ID NO: 9, and comprises a frameshift mutation in exon 2 of the PRRT2 gene, wherein the mutation in the PRRT2 sequence is c.649-650insC;
wherein the nucleic acid probe comprises a sequence that is at least 90% identical to at least 20 contiguous nucleotides SEQ ID NO: 3 or the complement thereof;
wherein the nucleic acid probe specifically hybridizes to the mutation or a complement of the mutation, wherein the nucleic acid probe is fixed to a solid support, and wherein the nucleic acid probe is labeled with a fluorescent moiety.