Publications

Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia–associated epilepsy

Lire

A recurrent point mutation in PRKCA is a hallmark of chordoid gliomas

Lire

HCN1mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

Lire

Treatment Responsiveness in KCNT1-Related Epilepsy

Lire

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7

Lire