A. Guët

发表

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

I. Scheffer, H. Mefford, A. Munnich, 2019, Human mutation.

DYRK1A mutations in two unrelated patients.

C. Depienne, D. Lederer, V. Benoit, 2015, European journal of medical genetics.

Severe Relapse of Epilepsy after Vigabatrin Withdrawal: For How Long Should We Treat Symptomatic Infantile Spasms?

O. Dulac, C. Chiron, A. Kaminska, 2007, Epilepsia.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients

C. Depienne, A. Afenjar, D. Cohen, 2018, Clinical genetics.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders : experience of two clinical units and 216 patients Running title : Medical exome and NDD

C. Depienne, A. Afenjar, D. Cohen, 2017 .

Early neurological phenotype in 4 children with biallelic PRODH mutations

D. Campion, A. Afenjar, D. Rodriguez, 2007, Brain and Development.

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

I. Scheffer, H. Mefford, A. Munnich, 2020, Epilepsia.

Antenatal diagnosis of absence of septum pellucidum

L. Mandelbrot, O. Picone, M. Tassin, 2020, Clinical case reports.

Further refinement of COL4A1 and COL4A2 related cortical malformations.

N. Boddaert, L. Pasquier, J. Chelly, 2018, European journal of medical genetics.

Anne de Saint Martin, I. Scheffer, H. Mefford, 2019 .

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

A. Leutenegger, S. Mazoyer, R. Bordonné, 2023, Proceedings of the National Academy of Sciences of the United States of America.

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

A. Green, D. Bonthron, E. Bertini, 2007, American journal of human genetics.