Cécile Laroche

TL;DR: STXBP1 (MUNC18‐1) mutations have been associated with various types of epilepsies, mostly beginning early in life, and this gene was studied in a cohort of patients with early onset epileptic encephalopathy to refine the phenotype associated with STX BP1 aberrations.

TL;DR: It is confirmed that VLCAD deficiency, although being less frequent than CPT II deficiency, should be systematically considered in the differential diagnosis of exercise-induced rhabdomyolysis and measurement of fasting blood acylcarnitines by tandem mass spectrometry allows accurate biochemical diagnosis.

TL;DR: Clinical and electroencephalography features associated with STXBP1‐related epilepsies to orient molecular screening are described toorient molecular screening.

TL;DR: This study shows that 16p13.11 microduplications are likely pathogenic when detected in the context of DD/ID/ASD and supports an essential role of NDE1 and miR-484 in the neurocognitive phenotype and suggests the need for cardiac evaluation and follow-up and a large study to evaluate the aortic disease risk.

TL;DR: Gene expression analyses lending evidence to the hypothesis that HDAC4 modulates severity of this disorder in a dosage‐dependent manner and a parent with mild symptoms of the disorder and a child exhibiting a more severe phenotype.