Severe epilepsy in CNTNAP2-related Pitt-Hopkins-like syndrome successfully treated with stiripentol

In the last few years, advances in next-generation sequencing (NGS) led to a significant increase of the number of genes associated with monogenic epilepsies, and expanded the phenotypes of known genes. Most of them encode for ion channels, however there is growing evidence for the dysfunction of genes implicated in synaptic, regulatory, and developmental functions in childhood-onset epileptic syndromes. The identification of genes and the ensuing functional and pharmacological studies have opened new perspectives in the treatment of epilepsies, that is progressively more targeted to counteracting the effect of mutations, in line with a precision-medicine approach.

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