A5054067653- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Neuroscience and Neuropharmacology Research
- Genomics and Rare Diseases
- Pharmacological Effects and Toxicity Studies
- Glycogen Storage Diseases and Myoclonus
- Ion channel regulation and function
- Metabolism and Genetic Disorders
- Genomic variations and chromosomal abnormalities
- Neurological disorders and treatments
- Diet and metabolism studies
- Fetal and Pediatric Neurological Disorders
- Lysosomal Storage Disorders Research
- Mitochondrial Function and Pathology
- Neonatal and fetal brain pathology
- EEG and Brain-Computer Interfaces
- Advanced MRI Techniques and Applications
- Cellular transport and secretion
- Cardiac electrophysiology and arrhythmias
- Ion Transport and Channel Regulation
- Nicotinic Acetylcholine Receptors Study
- Functional Brain Connectivity Studies
- Cerebrospinal fluid and hydrocephalus
- RNA and protein synthesis mechanisms
- Glioma Diagnosis and Treatment
Austin Health
2016-2025
The University of Melbourne
2016-2025
Florey Institute of Neuroscience and Mental Health
2013-2024
GTx (United States)
2024
University Medical Center Groningen
2018-2023
University of Groningen
2018-2023
Royal Children's Hospital
2010-2022
Austin Hospital
2001-2022
Walter and Eliza Hall Institute of Medical Research
2013-2022
Hospices Civils de Lyon
2018-2022
The International League Against Epilepsy (ILAE) Commission on Classification and Terminology has revised concepts, terminology, approaches for classifying seizures forms of epilepsy. Generalized focal are redefined as occurring in rapidly engaging bilaterally distributed networks (generalized) within limited to one hemisphere either discretely localized or more widely (focal). generalized is simplified. No natural classification exists; should be described according their manifestations...
The International League Against Epilepsy (ILAE) Classification of the Epilepsies has been updated to reflect our gain in understanding epilepsies and their underlying mechanisms following major scientific advances that have taken place since last ratified classification 1989. As a critical tool for practicing clinician, epilepsy must be relevant dynamic changes thinking, yet robust translatable all areas globe. Its primary purpose is diagnosis patients, but it also research, development...
Benign familial neonatal convulsions (BFNC) is an autosomal dominant epilepsy of infancy, with loci mapped to human chromosomes 20q13.3 and 8q24. By positional cloning, a potassium channel gene ( KCNQ2 ) located on was isolated found be expressed in brain. Expression frog Xenopus laevis oocytes led potassium-selective currents that activated slowly depolarization. In large pedigree BFNC, five–base pair insertion would delete more than 300 amino acids from the carboxyl terminus. mutant did...
The relationship between severe myoclonic epilepsy of infancy (SMEI or Dravet syndrome) and the related syndrome SMEI-borderland (SMEB) with mutations in sodium channel alpha 1 subunit gene SCN1A is well established. To explore phenotypic variability associated mutations, 188 patients a range epileptic encephalopathies were examined for sequence variations by denaturing high performance liquid chromatography sequencing. All had seizure onset within first 2 years life. A higher proportion...
There is little information available relevant to long-term seizure outcome after anterior temporal lobectomy, particularly at extended postoperative periods. The aim of this study was an in-depth examination patterns longitudinal and potential risk factors for recurrence utilizing a large patient sample with long follow-up. Included were 325 patients who underwent lobectomy between 1978 1998 (mean follow-up 9.6 +/- 4.2 years). Retrospective data analysed using survival analysis multivariate...
We used actuarial methods to study outcome after temporal lobectomy in 135 consecutive patients classified into subgroups according preoperative MRI findings. Sixty months surgery, 69% of with foreign tissue lesions, 50% hippocampal sclerosis, and 21% normal MRIs had no postoperative seizures. An eventual seizure-free state 2 years or more, whether the patient was since surgery not, achieved by 80% 62% those 36% MRIs. Outcome worse than other two groups. Early seizures later remission (the...
The disorder of autosomal dominant nocturnal frontal lobe epilepsy has recently been identified, and is now delineated in detail. A phenotypically homogeneous group five families from Australia, Britain Canada, containing 47 affected individuals, was studied. largest family contained 25 individuals spanning six generations. This characterized by clusters brief motor seizures, with hyperkinetic or tonic manifestations. Subjects often experienced an aura, remained aware throughout the attacks....
KCNQ2 and KCNQ3 mutations are known to be responsible for benign familial neonatal seizures (BFNS). A few reports on patients with a mutation more severe outcome exist, but definite relationship has not been established. In this study we investigated whether KCNQ2/3 frequent cause of epileptic encephalopathies an early onset recognizable phenotype exists.We analyzed 80 unexplained or early-infantile associated psychomotor retardation mutations. Clinical imaging data were reviewed in...
We performed hypothesis-free linkage analysis and exome sequencing in a family with two siblings who had neuronal ceroid lipofuscinosis (NCL). Two peaks maximum LOD scores of 3.07 2.97 were found on chromosomes 7 17, respectively. Unexpectedly, we these to be homozygous for c.813_816del (p.Thr272Serfs∗10) mutation the progranulin gene (GRN, granulin precursor) latter peak. Heterozygous mutations GRN are major cause frontotemporal lobar degeneration TDP-43 inclusions (FTLD-TDP), second most...
Two independent blinded observers reported the preoperative MRIs in a series of 81 consecutive patients with intractable temporal lobe epilepsy who were undergoing lobectomy. We then compared nature and lateralization MRI abnormalities pathologic diagnosis side The criteria hippocampal sclerosis an increased T<sub>2</sub>-weighted signal signal9s confinement to unilaterally small hippocampus. Imaging was performed coronal axial planes, specially orientated along perpendicular long axis body....
The epilepsies affect around 65 million people worldwide and have a substantial missing heritability component. We report genome-wide mega-analysis involving 15,212 individuals with epilepsy 29,677 controls, which reveals 16 significant loci, of 11 are novel. Using various prioritization criteria, we pinpoint the 21 most likely genes at these majority in genetic generalized epilepsies. These diverse biological functions, including coding for ion-channel subunits, transcription factors...
Abstract We studied twins to examine the genetics of epilepsy syndromes. ascertained 358 twin pairs in whom one or both reported seizures. After evaluation, 253 (71%) had seizure disorders and 105 were false positives. Among monozygous (MZ) pairs, more concordant for seizures (48 108; casewise concordance = 0.62 ± 0.05) than among dizygous (DZ) (14 145; 0.18 0.04). In 94% MZ 71% DZ same major syndrome. When analyzed according syndrome, concordances generalized (MZ 0.82; 0.26), idiopathic...
To evaluate the efficacy and safety of perampanel 2, 4, 8 mg/day added to 1-3 concomitant antiepileptic drugs (AEDs) in patients with uncontrolled partial-onset seizures.During this double-blind, placebo-controlled trial, persisting seizures on AEDs were randomized or placebo following a 6-week baseline phase. Perampanel was titrated weekly by 2 maintained at dose achieved for 13 weeks. Primary endpoints median percent change seizure frequency 50% responder rate. Analysis covariance...
Abstract The value of magnetic resonance imaging in the detection hippocampal sclerosis has been controversial. We studied 10 patients aged 22.5 ± 6.0 years with intractable temporal lobe epilepsy selected because a history prolonged childhood convulsion, which is characteristic group whom constant finding. All showed reduction size one hippocampus associated increased signal intensity on T2‐weighted images. These changes were reliably detected coronal spin‐echo images, perpendicular to long...