Summary Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizure syndromes, nocturnal frontal lobe epilepsy (NFLE) and malignant migrating focal seizures of infancy (MMFSI). To further explore the phenotypic spectrum associated with KCNT1, we examined individuals affected with focal epilepsy or an epileptic encephalopathy for mutations in the gene. We identified KCNT1 mutations in 12 previously unreported patients with focal epilepsy, multifocal epilepsy, cardiac arrhythmia, and in a family with sudden unexpected death in epilepsy (SUDEP), in addition to patients with NFLE and MMFSI. In contrast to the 100% penetrance so far reported for KCNT1 mutations, we observed incomplete penetrance. It is notable that we report that the one KCNT1 mutation, p.Arg398Gln, can lead to either of the two distinct phenotypes, ADNFLE or MMFSI, even within the same family. This indicates that genotype–phenotype relationships for KCNT1 mutations are not straightforward. We demonstrate that KCNT1 mutations are highly pleiotropic and are associated with phenotypes other than ADNFLE and MMFSI. KCNT1 mutations are now associated with Ohtahara syndrome, MMFSI, and nocturnal focal epilepsy. They may also be associated with multifocal epilepsy and cardiac disturbances.

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Asylum seekers are susceptible to chronic non-communicable diseases pre- and post-arrival due to poor living conditions, unhealthy lifestyles and restrictive and poor access to health services. Despite their need for constant and continuous health care access due to poor health, they face healthcare services access restrictions dependent on their visa conditions in Australia. Some visas only allow access to hospital services with restrictions on primary health services access such as GPs and free or discounted pharmaceutical products. In comparison, disadvantaged host populations have access to free/discounted pharmaceutical products and unrestricted access to primary and secondary health care. Ten professionals who constantly engage with asylum seekers in three large asylum seeker centres in Melbourne were interviewed either face-to-face or over the phone. The interviews were essential to understand how health inequities may be addressed for asylum seekers. Interviews were audio-recorded, transcribed verbatim and analysed using a thematic analysis framework. Their recommendations, based mainly on their experience and evaluation of programs, were: (1) cultural competence training; (2) use of interpreters; (3) free access to health services and medications; (4) use of English learning to promote health literacy and community integration; (5) robust chronic non-communicable diseases screening; and (6) health promotion and accessible food programs.

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