The patent badge is an abbreviated version of the USPTO patent document. The patent badge does contain a link to the full patent document.
The patent badge is an abbreviated version of the USPTO patent document. The patent badge covers the following: Patent number, Date patent was issued, Date patent was filed, Title of the patent, Applicant, Inventor, Assignee, Attorney firm, Primary examiner, Assistant examiner, CPCs, and Abstract. The patent badge does contain a link to the full patent document (in Adobe Acrobat format, aka pdf). To download or print any patent click here.
Patent No.:
Date of Patent:
Jan. 23, 2018
Filed:
Jan. 05, 2009
Leanne Michelle Dibbens, South Australia, AU;
Ingrid Eileen Scheffer, Victoria, AU;
Samuel Frank Berkovic, Victoria, AU;
John Charles Mulley, South Australia, AU;
Jozef Gecz, South Australia, AU;
Leanne Michelle Dibbens, South Australia, AU;
Ingrid Eileen Scheffer, Victoria, AU;
Samuel Frank Berkovic, Victoria, AU;
John Charles Mulley, South Australia, AU;
Jozef Gecz, South Australia, AU;
The University of Melbourne, Victoria, AU;
Central Adelaide Local Health Network Inc., Adelaide, AU;
Abstract
Methods and kits for the diagnosis of illnesses related to protocadherin 19 (PCDH 19) protein deficiency or altered PCDH 19 protein function, in particular EFMR (Epilepsy and Mental Retardation limited to Females) are provided, as well as methods and kits for the identification of a predisposition to such illnesses and methods of screening subjects to identify carriers of such illnesses and methods and kits for the therapeutic or prophylactic treatment of PCDH 19 deficiency or altered PCDH 19 protein function. Further, nucleotide and amino acid sequences corresponding to a complete PCDH19 open reading frame (ORF), mutant sequences encoding non-functional PCDH19 mRNA or altered PCDH19 mRN A are described along with transformed cells and non-human transgenic animals comprising wild-type or mutant PCDH19 ORF nucleotide sequences.