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Journal article

Truncation of the GABA(A)-receptor gamma 2 subunit in a family with generalized epilepsy with febrile seizures plus

LA Harkin, DN Bowser, LM Dibbens, R Singh, F Phillips, RH Wallace, MC Richards, DA Williams, JC Mulley, SF Berkovic, IE Scheffer, S Petrou

American Journal of Human Genetics | UNIV CHICAGO PRESS | Published : 2002

DOI: 10.1086/338710

University of Melbourne Researchers

Steven Petrou's Profile Picture
Steven Petrou Author Florey Department of Neuroscience and Mental Health

Saul Mullen's Profile Picture
Saul Mullen Author Medical Education

Ingrid Scheffer's Profile Picture
Ingrid Scheffer Author Medicine - Austin Health

Michael Richards's Profile Picture
Michael Richards Author Medicine - Royal Melbourne Hospital

David Alan Williams's Profile Picture
David Alan Williams Author Physiology
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Citation metrics

332Web of Science
370Scopus

Keywords

Electrophysiology
Life Sciences & Biomedicine
Channel
Sequence Deletion
Animals
Seizures, Febrile
Female
Humans
Gamma-Aminobutyric Acid
Protein Conformation
Pedigree
Cell Line
Epilepsy, Generalized
Receptors
Epilepsies, Myoclonic
Xenopus Laevis
Endoplasmic Reticulum
Receptors, Gaba-A
Male
Oocytes
Subtypes
Genetics & Heredity
Base Sequence
Codon, Terminator
Science & Technology
Identification
Protein Subunits
Models, Molecular

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