Susanne Ruf

TL;DR: Results establish alterations of the gene encoding the NMDA receptor NR2A subunit as a major genetic risk factor for IFE.

TL;DR: To identify novel epilepsy genes using a panel approach and describe the functional consequences of mutations, a large number of mutations are identified using a single gene-based approach.

TL;DR: This study 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 the authors' families and one sporadic case (77% of index cases).

TL;DR: It is shown that initial control of spasms between days 14 and 42 of treatment was associated with higher mean VABS scores at 18 months, and presence of epilepsy at the assessment at age 18 months was similar in both treatment groups.

TL;DR: It is concluded that SPTAN1‐related disorders comprise a wide spectrum of neurodevelopmental phenotypes ranging from mild to severe and progressive, associated with a severe neurodegenerative course.