Detalhe da pesquisa
1.
Natural history of rare diseases using natural language processing of narrative unstructured electronic health records: The example of Dravet syndrome.
Epilepsia
; 65(2): 350-361, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38065926
2.
Fifteen years of real-world data on the use of vigabatrin in individuals with infantile epileptic spasms syndrome.
Epilepsia
; 65(2): 430-444, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37872396
3.
Adaptive behaviour in adolescents and adults with Dravet syndrome.
Dev Med Child Neurol
; 65(6): 838-846, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36316303
4.
SYNGAP1-related developmental and epileptic encephalopathy: The impact on daily life.
Epilepsy Behav
; 127: 108500, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-34954508
5.
Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.
Genet Med
; 23(5): 968-971, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33500571
6.
Epilepsy and movement disorders in CDG: Report on the oldest-known MOGS-CDG patient.
Am J Med Genet A
; 185(1): 219-222, 2021 01.
Artigo
Inglês
| MEDLINE | ID: mdl-33058492
7.
Head circumferences of patients with Dravet syndrome show growth slowdown.
Epilepsy Behav
; 111: 107157, 2020 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32702652
8.
Reversible tremor in an infant with vitamin E deficiency and cystic fibrosis.
Lancet
; 398(10295): 156, 2021 07 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34246348
9.
Refractory tonic-myoclonic status epilepticus with catamenial recurrence in epilepsy with myoclonic atonic seizures: A case report.
Heliyon
; 10(2): e24747, 2024 Jan 30.
Artigo
Inglês
| MEDLINE | ID: mdl-38304836
10.
A registry for Dravet syndrome: The Italian experience.
Epilepsia Open
; 8(2): 517-534, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36938796
11.
Non-convulsive febrile status epilepticus mimicking a postictal state after a febrile seizure: an ictal electroclinical and evolutive study.
Epileptic Disord
; 24(2): 387-396, 2022 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35014611
12.
Prospective Evaluation of Ghrelin and Des-Acyl Ghrelin Plasma Levels in Children with Newly Diagnosed Epilepsy: Evidence for Reduced Ghrelin-to-Des-Acyl Ghrelin Ratio in Generalized Epilepsies.
J Pers Med
; 12(4)2022 Mar 25.
Artigo
Inglês
| MEDLINE | ID: mdl-35455643
13.
Improving early diagnosis of rare diseases using Natural Language Processing in unstructured medical records: an illustration from Dravet syndrome.
Orphanet J Rare Dis
; 16(1): 309, 2021 07 13.
Artigo
Inglês
| MEDLINE | ID: mdl-34256808
14.
Remote Teamwork Management of NORSE During the COVID-19 Lockdown.
Neurol Clin Pract
; 11(2): e170-e173, 2021 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-33842087
15.
Migrating Focal Seizures and Myoclonic Status in ARV1-Related Encephalopathy.
Neurol Genet
; 7(3): e593, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-34017911
16.
A European pilot study in Dravet Syndrome to delineate what really matters for the patients and families.
Epilepsia Open
; 2021 Nov 07.
Artigo
Inglês
| MEDLINE | ID: mdl-34747137
17.
Epilepsy features in ARID1B-related Coffin-Siris syndrome.
Epileptic Disord
; 23(6): 865-874, 2021 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34730517
18.
SYNGAP1-DEE: A visual sensitive epilepsy.
Clin Neurophysiol
; 132(4): 841-850, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33639450
19.
Let the EEG speak my language: Italian translation of Standardized Computer-based Organized Reporting of EEG (SCORE).
Epileptic Disord
; 25(6): 919-922, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-37597157
20.
Gelastic seizures and "smiling spasms": A peculiar ictal pattern.
Epileptic Disord
; 25(2): 269-273, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-37194193