Clinical School (Austin Health) - Research Publications

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Type: Journal Article × End date: 2014 × Author: Berkovic, Samuel ×

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    A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation
    Puskarjov, M ; Seja, P ; Heron, SE ; Williams, TC ; Ahmad, F ; Iona, X ; Oliver, KL ; Grinton, BE ; Vutskits, L ; Scheffer, IE ; Petrou, S ; Blaesse, P ; Dibbens, LM ; Berkovic, SF ; Kaila, K (WILEY-BLACKWELL, 2014-06)
    Genetic variation in SLC12A5 which encodes KCC2, the neuron-specific cation-chloride cotransporter that is essential for hyperpolarizing GABAergic signaling and formation of cortical dendritic spines, has not been reported in human disease. Screening of SLC12A5 revealed a co-segregating variant (KCC2-R952H) in an Australian family with febrile seizures. We show that KCC2-R952H reduces neuronal Cl(-) extrusion and has a compromised ability to induce dendritic spines in vivo and in vitro. Biochemical analyses indicate a reduced surface expression of KCC2-R952H which likely contributes to the functional deficits. Our data suggest that KCC2-R952H is a bona fide susceptibility variant for febrile seizures.
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    Does variation in NIPA2 contribute to genetic generalized epilepsy?
    Hildebrand, MS ; Damiano, JA ; Mullen, SA ; Bellows, ST ; Scheffer, IE ; Berkovic, SF (SPRINGER, 2014-05)
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    The genetic basis of music ability
    Tan, YT ; McPherson, GE ; Peretz, I ; Berkovic, SF ; Wilson, SJ (FRONTIERS MEDIA SA, 2014-06-27)
    Music is an integral part of the cultural heritage of all known human societies, with the capacity for music perception and production present in most people. Researchers generally agree that both genetic and environmental factors contribute to the broader realization of music ability, with the degree of music aptitude varying, not only from individual to individual, but across various components of music ability within the same individual. While environmental factors influencing music development and expertise have been well investigated in the psychological and music literature, the interrogation of possible genetic influences has not progressed at the same rate. Recent advances in genetic research offer fertile ground for exploring the genetic basis of music ability. This paper begins with a brief overview of behavioral and molecular genetic approaches commonly used in human genetic analyses, and then critically reviews the key findings of genetic investigations of the components of music ability. Some promising and converging findings have emerged, with several loci on chromosome 4 implicated in singing and music perception, and certain loci on chromosome 8q implicated in absolute pitch and music perception. The gene AVPR1A on chromosome 12q has also been implicated in music perception, music memory, and music listening, whereas SLC6A4 on chromosome 17q has been associated with music memory and choir participation. Replication of these results in alternate populations and with larger samples is warranted to confirm the findings. Through increased research efforts, a clearer picture of the genetic mechanisms underpinning music ability will hopefully emerge.