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You searched for: Author/Creator Verbeek, Nienke E.

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1. A hereditary spastic paraplegia predominant phenotype caused by variants in the NEFL gene. (November 2020)

2. De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy. Issue 1 (27th November 2014)

4. Identification of Srp9 as a febrile seizure susceptibility gene. (12th March 2014)

5. Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A‐related seizure phenotypes. (11th May 2018)

6. Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes. (20th February 2018)

7. Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum. Issue 5 (9th April 2014)

8. Pitfalls in genetic testing: the story of missed SCN1A mutations. Issue 4 (14th April 2016)

9. Relationship of electrophysiological dysfunction and clinical severity in SCN2A‐related epilepsies. Issue 12 (13th September 2018)

10. The phenotypic spectrum of X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy. (7th January 2021)