Federico Zara

TL;DR: A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.

TL;DR: It is demonstrated that, in the general population, the personality trait neuroticism is significantly correlated with almost every psychiatric disorder and migraine, and it is shown that both psychiatric and neurological disorders have robust correlations with cognitive and personality measures.

TL;DR: Eight patients from two different families are described with a new form of autosomal dominant LGMD, which is proposed to call LGMD1C, associated with a severe deficiency of caveolin-3 in muscle fibres, and two mutations in the gene are identified that may interfere with caveolae formation at the muscle cell plasma membrane.

TL;DR: Clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy, and suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function.

TL;DR: The authors perform genome-wide association studies for 3 broad and 7 subtypes of epilepsy and identify 16 loci - 11 novel - that are further annotated by eQTL and partitioned heritability analyses that provide leads for epilepsy therapies based on underlying pathophysiology.