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Louise A. Harkin
Researcher at University of Adelaide
Publications - 19
Citations - 3639
Louise A. Harkin is an academic researcher from University of Adelaide. The author has contributed to research in topics: Epilepsy & Generalized epilepsy with febrile seizures plus. The author has an hindex of 15, co-authored 19 publications receiving 3457 citations. Previous affiliations of Louise A. Harkin include Boston Children's Hospital.
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Journal ArticleDOI
Mutant GABA A receptor γ2-subunit in childhood absence epilepsy and febrile seizures
Robyn H. Wallace,Carla Marini,Steven Petrou,Louise A. Harkin,Louise A. Harkin,David N. Bowser,Rekha G. Panchal,David A. Williams,Grant R. Sutherland,Grant R. Sutherland,John C. Mulley,John C. Mulley,Ingrid E. Scheffer,Ingrid E. Scheffer,Samuel F. Berkovic,Samuel F. Berkovic +15 more
TL;DR: It is found that the mutation in GABRG2 (encoding the γ2-subunit) abolished in vitro sensitivity to diazepam, raising the possibility that endozepines do in fact exist and have a physiological role in preventing seizures.
Journal ArticleDOI
The spectrum of SCN1A-related infantile epileptic encephalopathies
Louise A. Harkin,Jacinta M McMahon,Xenia Iona,Leanne M. Dibbens,Leanne M. Dibbens,James T. Pelekanos,Sameer M. Zuberi,Lynette G. Sadleir,Eva Andermann,Deepak Gill,Kevin Farrell,Mary B. Connolly,Thorsten Stanley,Michael Harbord,Frederick Andermann,Jing Wang,Sat Dev Batish,Jeffrey G. Jones,William K Seltzer,Alison Gardner,Grant R. Sutherland,Grant R. Sutherland,Samuel F. Berkovic,John C. Mulley,John C. Mulley,Ingrid E. Scheffer,Ingrid E. Scheffer +26 more
TL;DR: Knowing of an expanded spectrum of epileptic encephalopathies associated with SCN1A mutations allows earlier diagnostic confirmation for children with these devastating disorders, including cryptogenic generalized epilepsy and cryptogenic focal epilepsy.
Journal ArticleDOI
Truncation of the GABAA-Receptor γ2 Subunit in a Family with Generalized Epilepsy with Febrile Seizures Plus
Louise A. Harkin,Louise A. Harkin,David N. Bowser,Leanne M. Dibbens,Leanne M. Dibbens,Rita Singh,Fiona Phillips,Robyn H. Wallace,Robyn H. Wallace,Michaella C. Richards,David A. Williams,John C. Mulley,John C. Mulley,Samuel F. Berkovic,Ingrid E. Scheffer,Steven Petrou +15 more
TL;DR: A family that has generalized epilepsy with febrile seizures plus (GEFS(+)), including an individual with severe myoclonic epilepsy of infancy, in whom a third GABA(A)-receptor gamma2-subunit mutation was found.
Journal ArticleDOI
SCN1A mutations and epilepsy.
John C. Mulley,Ingrid E. Scheffer,Steven Petrou,Leanne M. Dibbens,Leanne M. Dibbens,Samuel F. Berkovic,Louise A. Harkin,Louise A. Harkin +7 more
TL;DR: Of all the known epilepsy genes SCN1A is currently the most clinically relevant, with the largest number of epilepsy related mutations so far characterized, and some clustering of mutations is observed in the C‐terminus and the loops between segments 5 and 6 of the first three domains of the protein.
Journal ArticleDOI
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies
Leanne M. Dibbens,Hua-Jun Feng,Michaella C. Richards,Louise A. Harkin,Bree L. Hodgson,Darren Scott,Misty R. Jenkins,Steven Petrou,Grant R. Sutherland,Ingrid E. Scheffer,Samuel F. Berkovic,Robert L. Macdonald,John C. Mulley +12 more
TL;DR: It is reported that genetic variation within the GABRD gene, which encodes theGABAA receptor delta subunit, affects GABA current amplitude consistent with a model of polygenic susceptibility to epilepsy in humans.