234 results on '"Heron, Sarah E."'
Search Results
2. KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects
3. Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation
4. Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy
5. Mutations in KCNT1 cause a spectrum of focal epilepsies
6. Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome
7. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
8. KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine
9. Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants
10. Channelopathies in idiopathic epilepsy
11. A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel
12. Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus
13. Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies
14. Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy
15. Familial focal epilepsy with variable foci mapped to chromosome 22q12: Expansion of the phenotypic spectrum
16. KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
17. “Blinders, phenotype, and fashionable genetic analysis”: Setting the record straight for epilepsy!
18. Proposed genetic classification of the “benign” familial neonatal and infantile epilepsies
19. Familial neonatal seizures with intellectual disability caused by a microduplication of chromosome 2q24.3
20. De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin
21. Neonatal seizures and long QT Syndrome: A cardiocerebral channelopathy?
22. Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability
23. Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures
24. SCN2A Mutations and Benign Familial Neonatal-Infantile Seizures: The Phenotypic Spectrum
25. Is Variation in the GABA(B) Receptor 1 Gene Associated with Temporal Lobe Epilepsy?
26. Generalized Epilepsy with Febrile Seizures Plus (GEFS+): Clinical Spectrum in Seven Italian Families Unrelated to SCN1A, SCN1B, and GABRG2 Gene Mutations
27. Association of Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.
28. Association of SLC32A1Missense Variants With Genetic Epilepsy With Febrile Seizures Plus
29. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations
30. PKD or not PKD : that is the question reply
31. Sodium-channel defects in benign familial neonatal-infantile seizures. (Research letters)
32. CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
33. KCNT1 gain-of-function in two epilepsy phenotypes is reversed by quinidine
34. PKD or Not PKD:That Is the Question Reply
35. BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings
36. Reply
37. PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome
38. The Molecular Genetics of the Benign Epilepsies of Infancy
39. Multiplex families with epilepsy
40. KCNT1mutations in seizure disorders: the phenotypic spectrum and functional effects
41. Mutations in KCNT1 cause a spectrum of focal epilepsies
42. Mutations inKCNT1cause a spectrum of focal epilepsies
43. Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures
44. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
45. Mutations in mammalian target of rapamycin regulatorDEPDC5cause focal epilepsy with brain malformations
46. KCNT1gain of function in 2 epilepsy phenotypes is reversed by quinidine
47. A variant of KCC 2 from patients with febrile seizures impairs neuronal Cl − extrusion and dendritic spine formation
48. Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
49. Mutations inPRRT2are not a common cause of infantile epileptic encephalopathies
50. Mutations in DEPDC5 cause familial focal epilepsy with variable foci
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