Conference Proceedings

Severe cognitive impairment and early-onset epilepsy in six patients with the de novo p.Glu590Lys variant of CUX2

N Chatron, RS Moller, NL Champaigne, A Kuechler, A Labalme, L Baggett, D Wieczorek, V des Portes, P Edery, E Gardella, IE Scheffer, H Mefford, D Sanlaville, GL Carvill, G Lesca

EUROPEAN JOURNAL OF HUMAN GENETICS | NATURE PUBLISHING GROUP | Published : 2018