211 results on '"de Bellescize, Julitta"'
Search Results
2. The EPIGENE network: A French initiative to harmonize and improve the nationwide diagnosis of monogenic epilepsies
3. Sleep disorders and ADHD symptoms in children and adolescents with typical absence seizures: An observational study
4. Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia
5. De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
6. Expanding the Mutational Landscape and Clinical Phenotype of CHD2-Related Encephalopathy.
7. Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes
8. Neural correlates of verbal working memory in children with epilepsy with centro-temporal spikes
9. Molecular and Phenotypic Characterization of the RORB-Related Disorder
10. BLAST paradigm: A new test to assess brief attentional fluctuations in children with epilepsy, ADHD, and normally developing children
11. Predictive factors and prognostic value for status epilepticus in newborns
12. The landscape of epilepsy-related GATOR1 variants
13. Molecular and Phenotypic Characterization of the RORB-Related Disorder
14. Anti‐seizure effect of MEK inhibitor in a child with neurofibromatosis type 1 ‐ developmental and epileptic encephalopathy and optic pathway glioma
15. Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?
16. Molecular and Phenotypic Characterization of the RORB-Related Disorder.
17. Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA
18. Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability
19. Molecular characterization of a cohort of 73 patients with infantile spasms syndrome
20. Behavioral and fMRI responses to fearful faces are altered in benign childhood epilepsy with centrotemporal spikes (BCECTS)
21. Correction: The landscape of epilepsy-related GATOR1 variants
22. KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism
23. Mutations in GABRB3: From febrile seizures to epileptic encephalopathies
24. Functional connectivity of insular efferences
25. Intrainsular Functional Connectivity in Human
26. White matter development in children with benign childhood epilepsy with centro-temporal spikes
27. A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2
28. KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
29. KCNT1-related epilepsies and epileptic encephalopathies:phenotypic and mutational spectrum
30. KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
31. Epileptic phenotype in late-onset hyperinsulinemic hypoglycemia successfully treated by diazoxide
32. Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers
33. Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: Genomic dissection makes the link with autism
34. Early‐onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant
35. Troubles du sommeil, TDAH et absences typiques de l’enfant et de l’adolescent : une étude observationnelle
36. Ring 14 chromosome presenting as early-onset isolated partial epilepsy
37. Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy
38. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
39. Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation
40. Myoclonic epilepsy in infancy: one or two diseases?
41. GRIN2A-related disorders : genotype and functional consequence predict phenotype
42. The landscape of epilepsy-related GATOR1 variants
43. GRIN2A-related disorders: genotype and functional consequence predict phenotype
44. Troubles de l’attention et impact des anomalies électroencéphalographiques paroxystiques intercritiques dans les épilepsies de l’enfant : présentation d’un nouveau test d’attention soutenue synchronisé à l’EEG
45. Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy
46. SEEG in ... Family
47. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
48. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis
49. Correlation between sleep disorders and ADHD in children with absence epilepsy: An observational study
50. Epileptic encephalopathy caused by BRAT1 mutations: Description of a novel patient
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