D. R. Vlaskamp

发表

Copy number variation in a hospital‐based cohort of children with epilepsy

C. V. van Ravenswaaij-Arts, P. Rump, O. Brouwer, 2017, Epilepsia open.

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

G. Carvill, I. Scheffer, H. Mefford, 2019, Human Mutation.

P. Kind, J. Hentschel, D. Mitter, 2018, Brain : a journal of neurology.

Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy.

C. V. van Ravenswaaij-Arts, P. Rump, O. Brouwer, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Functional correlates of clinical phenotype and severity in recurrent SCN2A variants

I. Scheffer, S. Berkovic, S. Petrou, 2022, Communications Biology.

SYNGAP1 encephalopathy

I. Scheffer, H. Mefford, S. Berkovic, 2018, Neurology.

SYNGAP1 encephalopathy A distinctive generalized developmental and epileptic encephalopathy

I. Scheffer, H. Mefford, S. Berkovic, 2022 .

First autochthonous human West Nile virus infections in the Netherlands, July to August 2020

C. Reusken, J. Reimerink, H. van den Kerkhof, 2020, Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

I. Scheffer, H. Mefford, M. Mackay, 2020, Genetics in Medicine.

Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy.

C. V. van Ravenswaaij-Arts, P. Rump, E. Brilstra, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Schizophrenia is a later‐onset feature of PCDH19 Girls Clustering Epilepsy

I. Scheffer, A. Bassett, D. Andrade, 2019, Epilepsia.

N. de Leeuw, C. V. van Ravenswaaij-Arts, C. Ruivenkamp, 2019, European journal of medical genetics.

Author response: SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

I. Scheffer, D. R. Vlaskamp, 2020, Neurology.

SYNGAP1 encephalopathy

H. Mefford, S. Berkovic, R. Kalnins, 2018, Neurology.

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

S. Sisodiya, A. Bayat, T. Kleefstra, 2023, Epilepsia open.

Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy.

C. V. van Ravenswaaij-Arts, P. Rump, O. Brouwer, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

N. de Leeuw, C. V. van Ravenswaaij-Arts, C. Ruivenkamp, 2019, European journal of medical genetics.

Treatment of prolonged convulsive seizures in children; a single centre, retrospective, observational study.

O. Brouwer, P. Callenbach, D. R. Vlaskamp, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.