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47 results on '"Nikanorova M"'

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1. Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

2. Association of ultra-rare coding variants with genetic generalized epilepsy: A case–control whole exome sequencing study

4. Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy

5. Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load

7. EpiNet as a way of involving more physicians and patients in epilepsy research: Validation study and accreditation process

9. A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine

20. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

23. Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

25. STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy

26. The spectrum of SCN1A-related infantile epileptic encephalopathies.

27. Mowat-Wilson syndrome: an underdiagnosed syndrome?

30. Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

31. Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

32. Fenfluramine treatment in pediatric patients with Dravet syndrome reduces seizure burden and overall healthcare costs: A retrospective and observational real-world study.

33. Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment.

34. Fenfluramine in the treatment of Dravet syndrome: Results of a third randomized, placebo-controlled clinical trial.

35. Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study.

36. Testing association of rare genetic variants with resistance to three common antiseizure medications.

37. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

38. Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

39. Review of clinical studies of perampanel in adolescent patients.

40. Effectiveness of antiepileptic therapy in patients with PCDH19 mutations.

41. The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

42. Mutations in KCNT1 cause a spectrum of focal epilepsies.

43. Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.

44. Encephalopathy with status epilepticus during sleep (ESES) induced by oxcarbazepine in idiopathic focal epilepsy in childhood.

45. Efficacy of verapamil as an adjunctive treatment in children with drug-resistant epilepsy: a pilot study.

46. A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA).

47. Ketogenic diet in the treatment of refractory continuous spikes and waves during slow sleep.

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