Damien Lederer

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: KDM6A mutations are identified as another cause of Kabuki syndrome and the growing role of histone methylases and histone demethylases in multiple-congenital-anomaly and intellectual-disability syndromes is highlighted.

TL;DR: De novo STXBP1 mutations are among the most frequent causes of epilepsy and encephalopathy with little correlation among seizure onset, seizure severity, and the degree of ID, and it is hypothesize that seizure severity and ID present 2 independent dimensions of the STX BP1-E phenotype.

TL;DR: It is demonstrated that less than 5% cases of Kabuki syndrome are due to KDM6A mutations, andHypertrichosis, long halluces and large central incisors may be useful clues to an underlying KDM 6A mutation in some patients.

TL;DR: Clinical features of the individuals reported here show significant overlap with those associated with 6p21.3 microdeletions, confirming that haploinsufficiency for SYNGAP1 is responsible for both disorders.