Search details
1.
GABRA1-Related Disorders: From Genetic to Functional Pathways.
Ann Neurol
; 2023 Aug 22.
Article
in English
| MEDLINE | ID: mdl-37606373
2.
Use, experience and perspectives of high-density EEG among Italian epilepsy centers: a national survey.
Neurol Sci
; 45(4): 1625-1634, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-37932644
3.
Encephalopathy related to status epilepticus during slow sleep (ESES). Pathophysiological insights and nosological considerations.
Epilepsy Behav
; 140: 109105, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36758358
4.
Ictal semiology of gelastic seizures.
Epilepsy Behav
; 140: 109025, 2023 03.
Article
in English
| MEDLINE | ID: mdl-36780776
5.
Adaptive behaviour in adolescents and adults with Dravet syndrome.
Dev Med Child Neurol
; 65(6): 838-846, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36316303
6.
PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES).
Neurol Sci
; 44(6): 2173-2176, 2023 Jun.
Article
in English
| MEDLINE | ID: mdl-36913149
7.
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy.
Am J Med Genet A
; 188(2): 522-533, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34713950
8.
Agrypnia excitata as the main feature in anti-leucine-rich glioma-inactivated 1 encephalitis: a detailed clinical and polysomnographic semiological analysis.
Eur J Neurol
; 29(3): 890-894, 2022 03.
Article
in English
| MEDLINE | ID: mdl-34679240
9.
SYNGAP1-related developmental and epileptic encephalopathy: The impact on daily life.
Epilepsy Behav
; 127: 108500, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34954508
10.
Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation.
J Hum Genet
; 66(10): 1035-1037, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-33785861
11.
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.
Article
in English
| MEDLINE | ID: mdl-33058492
12.
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East.
Hum Genet
; 139(11): 1429-1441, 2020 Nov.
Article
in English
| MEDLINE | ID: mdl-32488467
13.
Epileptic seizures of suspected autoimmune origin: a multicentre retrospective study.
J Neurol Neurosurg Psychiatry
; 91(11): 1145-1153, 2020 11.
Article
in English
| MEDLINE | ID: mdl-32859745
14.
The spectrum of REM sleep-related episodes in children with type 1 narcolepsy.
Brain
; 140(6): 1669-1679, 2017 Jun 01.
Article
in English
| MEDLINE | ID: mdl-28472332
15.
Photosensitive epilepsy is associated with reduced inhibition of alpha rhythm generating networks.
Brain
; 140(4): 981-997, 2017 Apr 01.
Article
in English
| MEDLINE | ID: mdl-28334965
16.
Reversible tremor in an infant with vitamin E deficiency and cystic fibrosis.
Lancet
; 398(10295): 156, 2021 07 10.
Article
in English
| MEDLINE | ID: mdl-34246348
17.
Melanopsin retinal ganglion cell loss in Alzheimer disease.
Ann Neurol
; 79(1): 90-109, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26505992
18.
Sleep disordered breathing in a cohort of children with achondroplasia: correlation between clinical and instrumental findings.
Minerva Pediatr
; 69(6): 481-488, 2017 Dec.
Article
in English
| MEDLINE | ID: mdl-26041006
19.
Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre study.
Epilepsia
; 57(11): 1808-1816, 2016 11.
Article
in English
| MEDLINE | ID: mdl-27762437
20.
Xp11.22 Microduplications Including HUWE1: Case Report and Literature Review.
Neuropediatrics
; 47(1): 51-6, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-26587761