A case of QARS1 associated epileptic encephalopathy and review of epilepsy in aminoacyl-tRNA synthetase disorders.

Introduction: Mutations in QARS1, which encodes human glutaminyl-tRNA synthetase, have been associated with epilepsy, developmental regression, progressive microcephaly and cerebral atrophy. Epilepsy caused by variants in QARS1 is usually drug-resistant and intractable. Childhood onset epilepsy is also reported in various aminoacyl-tRNA synthetase disorders.

Congenital subpendymal giant cell astrocytoma in children with tuberous sclerosis complex: growth patterns and neurological outcome.

Background: Literature regarding congenital subependymal giant cell astrocytomas (SEGA) is limited, and suggests they are at risk of rapid growth and complications. We sought to characterise the growth patterns of congenital SEGA. The second part of the study was an exploratory analysis of congenital SEGA as a possible biomarker for poor neurological outcome.

The natural history of subependymal giant cell astrocytomas in tuberous sclerosis complex: a review.

Tuberous sclerosis complex (TSC) is an auto-somal-dominant inherited condition with an incidence of approximately 1:6000 births, characterised by deregulated mTOR activity with multi-site hamartomas. Subependymal giant cell astrocytomas (SEGA) are one such hamartoma, affecting up to 24% of patients with TSC. Their intraventricular location may lead to life-threatening obstructive hydrocephalus.

Teenage smoking in pregnancy and birthweight: a population study, 2001-2004.

Objective: To determine the association between smoking in pregnant teenagers and baby birthweight.

Design, Setting And Participants: A retrospective population-based study of women aged < 20 years who gave birth to liveborn singletons in Australia between January 2001 and December 2004. Data were drawn from the National Perinatal Data Collection.