University of South Australia

About: University of South Australia is a education organization based out in Adelaide, South Australia, Australia. It is known for research contribution in the topics: Population & Context (language use). The organization has 10086 authors who have published 32587 publications receiving 913683 citations. The organization is also known as: The University of South Australia & UniSA.

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

Abstract: We performed genomic mapping of a family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and intellectual and psychiatric problems, identifying a disease-associated region on chromosome 9q34.3. Whole-exome sequencing identified a mutation in KCNT1, encoding a sodium-gated potassium channel subunit. KCNT1 mutations were identified in two additional families and a sporadic case with severe ADNFLE and psychiatric features. These findings implicate the sodium-gated potassium channel complex in ADNFLE and, more broadly, in the pathogenesis of focal epilepsies.

Physical and Sedentary Activity in Adolescents with Cerebral Palsy.

Abstract: Participation in regular physical activity (PA) provides health, psychological, and physiological benefits for people with and without a physical disability. This study investigated the physical and sedentary activity patterns of adolescents with cerebral palsy (CP). A cross-sectional, descriptive, postal survey was used, consisting of the Physical Activity Questionnaire for Adolescents (PAQ-A), self-reported level of gross motor function (based on the Gross Motor Function Classification System [GMFCS]), and specific questions regarding weekly sedentary activities. Following piloting to determine test-retest reliability (intraclass correlation [ICC] for PA=0.90; total weekly sedentary time=0.84) and concurrent validity (survey PA score vs pedometry, Pearson's r=0.24; survey PA score vs accelerometry, r=-0.21; survey weekly sedentary time vs logbook, r=0.38), the survey was mailed to all adolescents with CP in South Australia registered with Novita Children's Services (n=219). One hundred and twelve valid surveys were returned (76 males, 36 females; age range 11-17y, mean age 13y 11mo [SD 23mo]; GMFCS Level I, n=42; Level II, n=27; Level III, n=10; Level IV, n=17; Level V, n=15; level not reported, n=1). Results were compared with recent normative age- and sex-matched data sets. Key findings were that PA level of adolescents with CP was related to level of gross motor function and inversely related to age, and that adolescents with CP were less physically active than their peers without disability. Comparisons with normative data sets suggested that adolescents with CP tend to participate in less structured and lower intensity PA compared with non-disabled adolescents, though sedentary activity patterns (TV and computer use) of adolescents with and without CP were similar.