Genetics of epilepsy: The testimony of twins in the molecular era.

Objective: Analysis of twins with epilepsy to explore the genetic architecture of specific epilepsies, to evaluate the applicability of the 2010 International League Against Epilepsy (ILAE) organization of epilepsy syndromes, and to integrate molecular genetics with phenotypic analyses.

Methods: A total of 558 twin pairs suspected to have epilepsy were ascertained from twin registries (69%) or referral (31%). Casewise concordance estimates were calculated for epilepsy syndromes.

Lung cancer in Victoria: are we making progress?

Objectives: To identify areas to improve patient management in lung cancer, which remains the greatest cause of death from cancer in Australia.

Design And Setting: Retrospective survey of all cases of lung cancer reported to the Victorian Cancer Registry from 1 January to 30 June 2003 and followed up for 5 years.

Main Outcome Measures: Patient and disease characteristics, investigations, staging, treatment, cause of death, survival.

Evaluation of the Simplified Comorbidity Score (Colinet) as a prognostic indicator for patients with lung cancer: a cancer registry study.

Introduction: A Simplified Comorbidity Score (SCS) provided additional prognostic information to the established factors in patients with non-small cell lung cancer lung cancer. We undertook this analysis to test the prognostic value of the SCS in a population-based study.

Patients And Methods: Retrospective survey of all Victorians diagnosed with lung cancer in January-June 2003, identified from the Victorian Cancer Registry.

Pancreatic cancer: surgical management and outcomes after 6 years of follow-up.

Objective: To describe the management and outcomes of a population-based cohort of patients with pancreatic cancer in Victoria, Australia.

Design, Setting And Patients: Retrospective study based on questionnaires completed from medical histories of patients diagnosed with pancreatic cancer during 2002-2003 in Victoria who were identified from the Victorian Cancer Registry and followed up for 6 years.

Main Outcome Measures: Proportion of patients receiving each form of treatment, 30-day mortality, median survival, and 5-year and 6-year survival.

Use of chemotherapy and radiotherapy in patients with pancreatic cancer in Victoria (2002-2003): a retrospective cohort study.

Objective: To describe the management and outcomes of a population-based cohort of patients with pancreatic cancer treated with chemotherapy or radiotherapy in Victoria, Australia.

Design, Setting And Patients: Questionnaire-based study of patients diagnosed with pancreatic cancer during 2002-2003 in Victoria who were retrospectively identified from the Victorian Cancer Registry and followed up for a minimum of 5 years.

Main Outcome Measures: Reported treatment, referral patterns and survival rates.

Obstetric events as a risk factor for febrile seizures: a community-based twin study.

Adverse events during the perinatal period have traditionally been thought to contribute to the risk of febrile seizures although an association has not been found in large epidemiological studies. Disease-discordant twins provide a means to assess the role of non-shared environmental factors while matching for confounding factors and avoiding difficulties of epidemiological studies in singletons. This study aimed to examine the association of obstetric events and febrile seizures in a community-based twin study.

A twin study of genetic influences on epilepsy outcome.

The identification of genetic factors that confer susceptibility to the epilepsies has to date been the focus of genetic efforts in this field. Few studies have assessed the genetic contribution to disease course in epilepsy, yet an understanding of the genetic influences on epilepsy outcome is key to developing new therapeutic strategies. The aim of this study was to assess the genetic contributions to epilepsy outcome in twin pairs concordant for epilepsy.

Idiopathic generalized epilepsies: do sporadic and familial cases differ?

Purpose: Genetic factors are the only identified cause of idiopathic generalized epilepsies (IGEs), but the majority of cases do not have affected first-degree relatives. Here we investigate whether subjects with sporadic and familial IGE differ in terms of antecedent events and clinical and EEG features. Differences would support the hypothesis of a different etiology for sporadic cases, which has implications for choice of subjects for genetic association studies.

Seizures in family members of patients with hippocampal sclerosis.

Objective: To characterize seizures in family members of patients with refractory temporal lobe epilepsy (TLE) and hippocampal sclerosis (HS).

Methods: The authors systematically investigated family history (FH) of seizures in 66 probands with histologically proven HS, and in 51 control subjects. A positive FH was defined as at least one first-to-third-degree relative being affected.

Causes of epilepsies: insights from discordant monozygous twins.

Whereas some patients with epilepsy have known acquired or genetic causes, in many the cause is unknown. By analyzing monozygotic twins, discordant for epilepsy, subtle etiological factors may be detected. We analyzed 12 monozygotic, discordant twins for factors explaining discordancy.

APOE epsilon4 genotype is associated with an earlier onset of chronic temporal lobe epilepsy.

The authors analyzed the association between APOE epsilon4 genotype and clinical and MRI findings in 43 refractory temporal lobe epilepsy patients. The distribution of the alleles were normal. Ten patients (23%) had an APOE epsilon 4 allele and had an earlier onset of habitual seizures (with epsilon4 5 +/- 5 years; without epsilon4 15 +/- 10 years).

Twins with different temporal lobe malformations: schizencephaly and arachnoid cyst.

The etiology and relationships between different forms of malformations of cortical development are poorly understood. Schizencephaly is generally regarded as unrelated to arachnoid cysts. As part of a systematic study of epilepsy in twins we observed a monozygotic twin pair discordant for temporal lobe epilepsy where the twin with epilepsy had unilateral temporal schizencephaly and periventricular heterotopia.