Sudden unexpected infant death characteristics in the French region of West Provence-Alpes-Côte d'Azur.

: Although the incidence of sudden unexpected infant death (SUID) has decreased since the 'Back to Sleep' campaign in English-speaking countries and other preventive campaigns, the circumstances of such deaths remain unclear. : To analyse infant deaths recorded at the referral centre for sudden infant death of the West Provence-Alpes-Côte d'Azur region of France (West PACA) and the forensic medicine department of Marseille University Hospital. : Information on all SUID cases from 2000 to 2017 was extracted from the referral centre for sudden infant deaths in West PACA and the forensic medicine department of Marseille.

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.

Purpose: Inherited peripheral neuropathies (IPN) represent a large heterogenous group of hereditary diseases with more than 100 causative genes reported to date. In this context, targeted next-generation sequencing (NGS) offers the opportunity to screen all these genes with high efficiency in order to unravel the genetic basis of the disease. Here, we compare the diagnostic yield of targeted NGS with our previous gene by gene Sanger sequencing strategy.