Search

Your search keyword '"Stipa, Carlotta"' showing total 34 results

Search Constraints

Start Over You searched for: Author "Stipa, Carlotta" Remove constraint Author: "Stipa, Carlotta"
34 results on '"Stipa, Carlotta"'

Search Results

2. Distinct gene-set burden patterns underlie common generalized and focal epilepsies

3. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

5. Biallelic pathogenic variants of PARS2 cause developmental and epileptic encephalopathy with spike‐and‐wave activation in sleep.

7. A case of clinical worsening after stereo-electroencephalographic-guided radiofrequency thermocoagulation in a patient with polymicrogyria

11. Distinct gene-set burden patterns underlie common generalized and focal epilepsies

15. The Impact of the COVID-19 Pandemic on People With Epilepsy. An Italian Survey and a Global Perspective

16. Whole‐exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late

17. Epilepsy Subtype-Specific Copy Number Burden Observed in a Genome-Wide Study of 17 458 Subjects

18. Epileptic and developmental encephalopathies: clinical and genetic study of adult patients attending a tertiary Epilepsy Centre

21. Epileptic and developmental encephalopathies: clinical and genetic study of adult patients attending a tertiary Epilepsy Centre

22. Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

24. Epilepsy with auditory features: Long-term outcome and predictors of terminal remission

25. Effect of valproic acid on perampanel pharmacokinetics in patients with epilepsy.

26. Epilepsy with auditory features

27. Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions

28. Pearls & Oy-sters

30. Juvenile absence epilepsy relapsing as recurrent absence status, mimicking transient global amnesia, in an elderly patient

31. Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations

32. Adult patients with intellectual disability and epilepsy: clinical and genetic study of 114 cases

33. Auditory aura in nocturnal frontal lobe epilepsy: a red flag to suspect an extra-frontal epileptogenic zone

34. Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Catalog

Books, media, physical & digital resources