Epilepsy: A Collaborative Research Program From Genome to Patient

Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants

SE Heron, H Khosravani, D Varela, C Bladen, TC Williams, MR Newman, IE Scheffer, SF Berkovic, JC Mulley, GW Zamponi

2007-12-01

Objective: The relationship between genetic variation in the T-type calcium channel gene CACNA1H and childhood absence epilepsy is..

SCN2A mutations and benign familial neonatal-infantile seizures: The phenotypic spectrum

E Herlenius, SE Heron, BE Grinton, D Keay, IE Scheffer, JC Mulley, SF Berkovic

2007-06-01

Mutations of the sodium channel subunit gene SCN2A have been described in families with benign familial neonatal-infantile seizure..

Replicated effects of sex and genotype on gene expression in human lymphoblastoid cell lines

AF McRae, NA Matigian, L Vadlamudi, JC Mulley, B Mowry, NG Martin, SF Berkovic, NK Hayward, PM Visscher

2007-02-15

The expression level for 15 887 transcripts in lymphoblastoid cell lines from 19 monozygotic twin pairs (10 male, 9 female) were a..

Functional connectivity networks are disrupted in left temporal lobe epilepsy

AB Waites, RS Briellmann, MM Saling, DF Abbott, GD Jackson

2006-02-01

Objective: Functional connectivity maps the distributed network of brain regions fluctuating synchronously during a continuous bra..

Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?

NCK Tan, SE Heron, IE Scheffer, SF Berkovic, JC Mulley

2005-05-01

Purpose: γ-Aminobutyric acid (GABA)-receptor genes are prime candidates for a role in seizure susceptibility. An association betwe..

Effect of prior cognitive state on resting state networks measured with functional connectivity

AB Waites, A Stanislavsky, DF Abbott, GD Jackson

2005-01-01

To address the extent to which functional connectivity measures an absolute brain state, we observed the effect of prior performan..

How reliable are fMRI-EEG studies of epilepsy? A nonparametric approach to analysis validation and optimization

AB Waites, ME Shaw, RS Briellmann, A Labate, DF Abbott, GD Jackson

2005-01-01

Simultaneously acquired functional magnetic resonance imaging (fMRI) and electroencephalography (EEG) data hold great promise for ..

Is benign rolandic epilepsy genetically determined?

L Vadlamudi, AS Harvey, MM Connellan, RL Milne, JL Hopper, IE Scheffer, SF Berkovic

2004-07-01

Benign rolandic epilepsy (BRE) is considered to be a genetically determined idiopathic partial epilepsy. We studied twins with BRE..

Genetic Variation of CACNA1H in Idiopathic Generalized Epilepsy [1]

SE Heron, HA Phillips, JC Mulley, A Mazarib, MY Neufeld, SF Berkovic, IE Scheffer

2004-04-01

Voxel-based relaxometry: A new approach for analysis of T2 relaxometry changes in epilepsy

GS Pell, RS Briellmann, AB Waites, DF Abbott, GD Jackson

2004-01-01

The measurement of the T2 relaxation time (T2 relaxometry) had been established as a reliable tool for the assessment of certain c..

fMRI "deactivation" of the posterior cingulate during generalized spike and wave

JS Archer, DF Abbott, AB Waites, GD Jackson

2003-01-01

Using spike-triggered fMRI, we sought to document regional changes in blood oxygen level-dependent (BOLD) activity associated with..