Julie Sutera-Sardo

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

L. Vercueil, A. Afenjar, S. Auvin, 2013, Orphanet Journal of Rare Diseases.

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.

M. Lathrop, N. Girard, J. Desvignes, 2013, American journal of human genetics.

Variable clinical expression in patients with mosaicism for KCNQ2 mutations

A. Afenjar, N. Philip, E. Colin, 2015, American journal of medical genetics. Part A.

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels

G. Alcaraz, A. Afenjar, L. Aniksztejn, 2015, Neurobiology of Disease.

A recurrent KCNQ 2 pore mutation causing early onset epileptic encephalopathy has amoderate effect onM current but alters subcellular localization of Kv 7 channels

G. Alcaraz, A. Afenjar, L. Aniksztejn, 2015 .

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.

M. Lathrop, N. Girard, J. Desvignes, 2013, American journal of human genetics.

Variable clinical expression in patients with mosaicism for KCNQ2 mutations

A. Afenjar, N. Philip, E. Colin, 2015, American journal of medical genetics. Part A.