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drs. F.M.C. van Berkestijn

drs. F.M.C. van Berkestijn

Assistant Professor - medical
  • Integral pediatrics patient care
  • Care

Research Output (8)

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy:A Molecular Neuropharmacological Approach

Boerma Ragna S., Braun Kees P., van den Broek Maarten P H, van Berkestijn Frederique M C, Swinkels Marielle E. , Hagebeuk Eveline O., Lindhout Dick, van Kempen Marjan, Boon Maartje, Nicolai Joost, de Kovel Carolien G., Brilstra Eva H., Koeleman Bobby P C 1 Jan 2016, In: Neurotherapeutics . 13 , p. 192-197 6 p.

Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

Boerma Ragna S., Braun Kees P., van den Broek Marcel P H , van Berkestijn Frederique M C , Swinkels Marielle E., Hagebeuk Eveline O., Lindhout Dick, van Kempen Marjan, Boon Maartje, Nicolai Joost, de Kovel Carolien G., Brilstra Eva H., Koeleman Bobby P C 1 Jan 2016, In: Neurotherapeutics . 13 , p. 238 1 p.

Retinabloedingen als teken van kindermishandeling

van den Hoven C M L, van Berkestijn F M C, Russel-Kampschoer I M B, Karst W A, Voskuil-Kerkhof E S M 2016, In: Nederlands Tijdschrift voor Geneeskunde. 160 7 p.

Expanding the spectrum of phenotypes associated with germline PIGA mutations: A child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

van der Crabben S.N., Harakalova M., Brilstra E.H., van Berkestijn F.M.C., Hofstede F.C., van Vught A.J., Cuppen E., Kloosterman W.P., Ploos van Amstel H.K., van Haaften G., van Haelst M.M. 2014, In: American Journal of Medical Genetics. Part A. 164 , p. 29-35 7 p.

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

de Kovel C.G.F., Meisler M.H., Brilstra E.H., van Berkestijn F.M.C., van ´t Slot R., van Lieshout S., Nijman I.J., O'Brien J.E, Hammer M.F., Estacion M., Waxman S.G., Dib-Haij S.D., Koeleman B.P.C. 2014, In: Epilepsy Research. 108 , p. 1511-1518 8 p.

Benign familial neonatal convulsions: clinical and genetic analysis in seven Dutch families

Verbeek N.E., van Kempen M.J.A., Arts W.F.M., Stroink H., Bader A.J., ten Berg K., Starreveld J.S., Baarsma R., van Berkestijn F.M.C., van Nieuwenhuizen O., Lindhout D. 2 Jul 2006,

Benign familial neonatal convulsions: clinical and genetic analysis in seven Dutch families

Verbeek N.E., van Kempen M.J.A., Arts W.F.M., Stroink H., Bader A.J., ten Berg K., Starreveld J.S., Baarsma R., van Berkestijn F.M.C., van Nieuwenhuizen O., Lindhout D. 6 May 2006, In: European Journal of Human Genetics. 14 S1 , p. 107 1 p.

Benign familial neonatal convulsions: clinical and genetic analysis in seven Dutch families

Verbeek N.E., van Kempen M.J.A., Arts W.F.M., Stroink H., Bader A.J., ten Berg K., Starreveld J.S., Baarsma R., van Berkestijn F.M.C., van Nieuwenhuizen O., Lindhout D. 6 May 2006,

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