The materiality of composition processes. Interaction-analytical approaches towards the changeability of things

Various things, such as instruments, everyday items or digital media, are oftentimes at the centre of students’ composition processes and therefore central for the understanding of music education in schools. In the wake of Latour’s progressive actor-network-theory (Latour, 2005), a number of innovative approaches in qualitative classroom research focusing on the role of things have emerged (e.g. Fetzer, 2017; Martens, Asbrand, Spieß, 2015). From a praxeological perspective, recent research suggests that (in-school) use of things follows ritualized rules and that the specific meaning attributed to them is subject to constant re-negotiation (Rabenstein, 2018b). This article tries to summarize classroom research integrating things in order to develop a methodological framework for a subject-specific approach. The proposed changeability of things will be elaborated in a case study of a student group’s composition process (Rabenstein, 2018a). (DIPF/Orig.

PRRT2 Mutations Are the Major Cause of Benign Familial Infantile Seizures

Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large family with late-onset BFIS and febrile seizures. Our study further establishes PRRT2 as the major gene for BFIS alone. Hum Mutat 33:1439-1443, 2012. (C) 2012 Wiley Periodicals, Inc

PRRT2 Mutations are the major cause of benign familial infantile seizures

Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large family with late-onset BFIS and febrile seizures. Our study further establishes PRRT2 as the major gene for BFIS alone. Hum Mutat 33:1439-1443, 2012. (C) 2012 Wiley Periodicals, Inc