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3. Classic ketogenic diet versus further antiseizure medicine in infants with drug-resistant epilepsy (KIWE): a UK, multicentre, open-label, randomised clinical trial

4. Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

7. Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

8. POLR3B is associated with a developmental and epileptic encephalopathy with myoclonic‐atonic seizures and ataxia.

9. Efficacy and safety of ketogenic diet in infants with epilepsy: KIWE RCT.

10. Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants

11. Brainstem depolarization–induced lethal apnea associated with gain-of-function SCN1A L263V is prevented by sodium channel blockade

12. Genotype–phenotype associations in 1018 individuals with SCN1A-related epilepsies

13. Unraveling unmet needs in ketogenic dietary services: An ERN EpiCARE survey.

15. Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders

16. Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies

17. Molecular dynamics simulations reveal molecular mechanisms for the gain and loss of function effects of fourSCN2Avariants

19. Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study

20. Brainstem depolarization-induced lethal apnea associated with gain-of-function SCN1AL263V is prevented by sodium channel blockade.

21. Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial

23. Genotype phenotype relationships in SCN1A related childhood epilepsies

24. Neuronal antibody prevalence in children with seizures < 3 years: a prospective national cohort

26. Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A+ Dravet syndrome: Insights from the ENVISION natural history study.

28. Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

29. Delineation of functionally essential protein regions for 242 neurodevelopmental genes

30. Delineation of functionally essential protein regions for 242 neurodevelopmental genes

31. Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

32. Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.

35. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

36. ILAE Genetics Literacy series: Progressive myoclonus epilepsies

37. Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

39. Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes 2022.03.23.485339

40. Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes 2022.03.23.485339

41. Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies

42. Gene variant effects across sodium channelopathies predict function and guide precision therapy

43. Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies

45. Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial

46. Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies

47. ILAE Genetic Literacy Series: Self‐limited familial epilepsy syndromes with onset in neonatal age and infancy

48. ILAE Genetic Literacy Series: Postmortem Genetic Testing in Sudden Unexpected Death in Epilepsy

50. Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants

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