Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

Francesca Ariani, Dalila Rondinella, Rosangela Artuso et al. · The American Journal of Human Genetics · 2008 · 434 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Key clinical features to identify girls with CDKL5 mutations

Nadia Bahi‐Buisson, Juliette Nectoux, Haydeé Rosas‐Vargas et al. · Brain · 2008 · 288 citations

Life Sciences, Genetics, Neurology +14

Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients

Peter Huppke · Human Molecular Genetics · 2000 · 246 citations

Life Sciences, Genetics, Molecular Genetics +17

Rett variants: A suggested model for inclusion criteria

Bengt Hagberg, Ola H. Skjeldal · Pediatric Neurology · 1994 · 215 citations

Education, Educational Measurement, Item Response Theory +6

The three stages of epilepsy in patients with <i>CDKL5</i> mutations

Nadia Bahi‐Buisson, Anna Kamińska, Nathalie Boddaert et al. · Epilepsia · 2008 · 190 citations

Medicine, Genetics, Neurology +16