Skip navigation
Home
Browse
Communities
& Collections
Browse Items by:
Issue Date
Author
Title
Advisor
Help
Sign on to:
My DSpace
Receive email
updates
Edit Profile
Adelaide Research & Scholarship
Adelaide Research & Scholarship
Search
Search:
All collections
Schools and Disciplines
School of Molecular and Biomedical Science
Molecular and Biomedical Science publications
for
Current filters:
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Start a new search
Add filters:
Use filters to refine the search results.
Title
Author
Subject
Date Issued
Advisor
School
Department
Organisation
Equals
Contains
ID
Not Equals
Not Contains
Not ID
Results 1-10 of 16 (Search time: 0.002 seconds).
previous
1
2
next
Item hits:
Preview
Issue Date
Title
Author(s)
2002
Sodium-channel defects in benign familial neonatal-infantile seizures
Heron, S.
;
Crossland, K.
;
Andermann, E.
;
Phillips, H.
;
Hall, A.
;
Bleasel, A.
;
Shevell, M.
;
Mercho, S.
;
Seni, M.
;
Guiot, M.
;
Mulley, J.
;
Berkovic, S.
;
Scheffer, I.
2000
A de novo mutation in sporadic nocturnal frontal lobe epilepsy
Phillips, H.
;
Marini, C.
;
Scheffer, I.
;
Sutherland, G.
;
Mulley, J.
;
Berkovic, S.
2004
Benign familial neonatal-infantile seizures: Characterization of a new sodium channelopathy
Berkovic, S.
;
Heron, S.
;
Giordano, L.
;
Marini, C.
;
Guerrini, R.
;
Kaplan, R.
;
Gambardella, A.
;
Steinlein, O.
;
Grinton, B.
;
Dean, J.
;
Bordo, L.
;
Hodgson, B.
;
Yamamoto, T.
;
Mulley, J.
;
Zara, F.
;
Scheffer, I.
2011
A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia
Corbett, M.
;
Schwake, M.
;
Bahlo, M.
;
Dibbens, L.
;
Lin, M.
;
Gandolfo, L.
;
Vears, D.
;
O'Sullivan, J.
;
Robertson, T.
;
Bayly, M.
;
Gardner, A.
;
Vlaar, A.
;
Korenke, G.
;
Bloem, B.
;
de Coo, I.
;
Verhagen, J.
;
Lehesjoki, A.
;
Gecz, J.
;
Berkovic, S.
2010
A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24
Bahlo, M.
;
Jolly, L.
;
Afawi, Z.
;
Gardner, A.
;
Oliver, K.
;
Tan, S.
;
Coffey, A.
;
Mulley, J.
;
Dibbens, L.
;
Simri, W.
;
Shalata, A.
;
Kivity, S.
;
Jackson, G.
;
Berkovic, S.
;
Gecz, J.
;
Corbett, M.
2006
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study
Berkovic, S.
;
Harkin, L.
;
McMahon, J.
;
Pelekanos, J.
;
Zuberi, S.
;
Wirrell, E.
;
Gill, D.
;
Iona, X.
;
Mulley, J.
;
Scheffer, I.
2007
Replicated effects of sex and genotype on gene expression in human lymphoblastoid cell lines
McRae, A.
;
Matigian, N.
;
Vadlamudi, L.
;
Mulley, J.
;
Mowry, B.
;
Martin, N.
;
Berkovic, S.
;
Hayward, N.
;
Visscher, P.
2007
Temporal lobe epilepsy and GEFS(+) phenotypes associated with SCN1B mutations
Scheffer, I.
;
Harkin, L.
;
Grinton, B.
;
Dibbens, L.
;
Turner, S.
;
Zielinski, M.
;
Xu, R.
;
Jackson, G.
;
Adams, J.
;
Connellan, M.
;
Petrou, S.
;
Wellard, R.
;
Briellmann, R.
;
Wallace, R.
;
Mulley, J.
;
Berkovic, S.
2002
Truncation of the GABAA-receptor γ2 subunit in a family with generalized epilepsy with febrile seizures plus
Harkin, L.
;
Bowser, D.
;
Dibbens, L.
;
Singh, R.
;
Phillips, F.
;
Wallace, R.
;
Richards, M.
;
Williams, D.
;
Mulley, J.
;
Berkovic, S.
;
Scheffer, I.
;
Petrou, S.
2001
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy
Phillips, H.
;
Favre, I.
;
Kirkpatrick, M.
;
Zuberi, S.
;
Goudie, D.
;
Heron, S.
;
Scheffer, I.
;
Sutherland, G.
;
Berkovic, S.
;
Bertrand, D.
;
Mulley, J.
Discover
Author
15
Mulley, J.
13
Scheffer, I.
6
Dibbens, L.
5
Harkin, L.
5
Wallace, R.
4
Heron, S.
4
Phillips, H.
3
Gardner, A.
3
Gecz, J.
3
Grinton, B.
.
next >
Subject
15
Male
11
Pedigree
9
Adult
8
Child
8
Mutation
7
Adolescent
7
DNA Mutational Analysis
7
Nerve Tissue Proteins
7
Sodium Channels
5
Amino Acid Sequence
.
next >
Date issued
2
2010 - 2011
14
2000 - 2009