Thorsten Stanley

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

J. Shendure, G. Carvill, I. Scheffer, 2013, Nature Genetics.

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

I. Scheffer, S. Berkovic, D. Lev, 2015, Epilepsia.

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

Lieven Lagae, Berten Ceulemans, Liesbet Deprez, 2012, Annals of neurology.

The spectrum of SCN1A-related infantile epileptic encephalopathies.

I. Scheffer, F. Andermann, S. Berkovic, 2007, Brain : a journal of neurology.

Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder

G. Carvill, I. Scheffer, H. Mefford, 2021, Neurology: Genetics.

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

I. Scheffer, L. Lagae, S. Berkovic, 2012, Annals of neurology.