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1 . Academic Journal
Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey
저자
by
Cossu, A.
;
Lo Barco, T.
;
Proietti, J.
;
Dalla Bernardina, B.
;
Cantalupo, G.
, et al.
소스
In
Epilepsy & Behavior
May 2023 142
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7 . Academic Journal
Electroclinical findings and long‐term outcomes in epileptic patients with inv dup (15).
저자
by
Matricardi, S.
;
Darra, F.
;
Spalice, A.
;
Basti, C.
;
Fontana, E.
, et al.
소스
Acta Neurologica Scandinavica
. Jun2018, Vol. 137 Issue 6, p575-581. 7p.
Web of Science
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7 .
Consensus protocol for EEG and amplitude-integrated EEG assessment and monitoring in neonates
저자
by
Dilena, R.
;
Raviglione, F.
;
Cantalupo, G.
;
Cordelli, D. M.
;
De Liso, P.
, et al.
소스
Open Access (OpenAIRE)
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7 . Academic Journal
EEG findings during “paroxysmal hemiplegia” in a patient with GLUT1-deficiency.
저자
by
Pellegrin, S.
;
Cantalupo, G.
;
Opri, R.
;
Dalla Bernardina, B.
;
Darra, F.
.
소스
European Journal of Paediatric Neurology; May2017, Vol. 21 Issue 3, p580-582, 3p
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7 . Academic Journal
Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution
저자
by
Agostinelli, S.
;
Traverso, M.
;
Accorsi, P.
;
Beccaria, F.
;
Belcastro, V.
, et al.
소스
European Journal of Neurology
. May 01, 2013 20(5):856-859
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7 . Academic Journal
Early-onset absence epilepsy: SLC2 A1 gene analysis and treatment evolution.
저자
by
Agostinelli, S.
;
Traverso, M.
;
Accorsi, P.
;
Beccaria, F.
;
Belcastro, V.
, et al.
소스
European Journal of Neurology
. May2013, Vol. 20 Issue 5, p856-859. 4p. 1 Chart.
Web of Science
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7 . Academic Journal
Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.
저자
by
Terracciano, A.
;
Specchio, N.
;
Darra, F.
;
Sferra, A.
;
Bernardina, B.
, et al.
소스
Neurogenetics; Nov2012, Vol. 13 Issue 4, p341-345, 5p
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7 . Academic Journal
Familial Ohtahara syndrome due to a novel ARX gene mutation
저자
by
Giordano, L.
;
Sartori, S.
;
Russo, S.
;
Accorsi, P.
;
Galli, J.
, et al.
소스
American Journal Of Medical Genetics - A
. Dec 01, 2010 152A(12):3133-3137
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7 . Academic Journal
Refining the phenotype associated with MEF2C haploinsufficiency.
저자
by
Novara, F.
;
Beri, S.
;
Giorda, R.
;
Ortibus, E.
;
Nageshappa, S.
, et al.
소스
Clinical Genetics
. Nov2010, Vol. 78 Issue 5, p471-477. 7p. 1 Black and White Photograph, 1 Diagram, 1 Chart.
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7 . Periodical
Familial Ohtahara syndrome due to a novel ARXgene mutation
저자
by
Giordano, L.
;
Sartori, S.
;
Russo, S.
;
Accorsi, P.
;
Galli, J.
, et al.
소스
American Journal of Medical Genetics. Part A; December 2010, Vol. 152 Issue: 12 p3133-3137, 5p
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