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1 . Academic Journal
Case report: Marked electroclinical improvement by fluoxetine treatment in a patient with KCNT1-related drug-resistant focal epilepsy
저자
by
Ilaria Mosca
;
Elena Freri
;
Paolo Ambrosino
;
Giorgio Belperio
;
Tiziana Granata
, et al.
소스
Frontiers in Cellular Neuroscience, Vol 18 (2024)
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7 . Academic Journal
Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes
저자
by
Barbara Castellotti
;
Laura Canafoglia
;
Elena Freri
;
Maria Tappatà
;
Giuliana Messina
, et al.
소스
Epilepsia Open, Vol 8, Iss 2, Pp 645-650 (2023)
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7 . Academic Journal
A registry for Dravet syndrome: The Italian experience
저자
by
Simona Balestrini
;
Viola Doccini
;
Sabrina Giometto
;
Ersilia Lucenteforte
;
Salvatore De Masi
, et al.
소스
Epilepsia Open, Vol 8, Iss 2, Pp 517-534 (2023)
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7 . Academic Journal
GLUT1-DS Italian registry: past, present, and future: a useful tool for rare disorders
저자
by
Costanza Varesio
;
Valentina De Giorgis
;
Pierangelo Veggiotti
;
Nardo Nardocci
;
Tiziana Granata
, et al.
소스
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
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7 . Academic Journal
Case report: SLC6A1 mutations presenting with isolated absence seizures: description of 2 novel cases
저자
by
Davide Caputo
;
Silvana Franceschetti
;
Barbara Castellotti
;
Elena Freri
;
G. Zorzi
, et al.
소스
Frontiers in Neuroscience, Vol 17 (2023)
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7 . Academic Journal
Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes
저자
by
Ilaria Mosca
;
Ilaria Rivolta
;
Audrey Labalme
;
Paolo Ambrosino
;
Barbara Castellotti
, et al.
소스
Frontiers in Pharmacology, Vol 13 (2022)
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7 . Academic Journal
A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies
저자
by
Tobias Baumgartner
;
Mar Carreño
;
Rodrigo Rocamora
;
Francesca Bisulli
;
Antonella Boni
, et al.
소스
Epilepsia Open, Vol 6, Iss 1, Pp 160-170 (2021)
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7 . Academic Journal
Results From an Italian Expanded Access Program on Cannabidiol Treatment in Highly Refractory Dravet Syndrome and Lennox–Gastaut Syndrome
저자
by
Luigi Francesco Iannone
;
Gabriele Arena
;
Domenica Battaglia
;
Francesca Bisulli
;
Paolo Bonanni
, et al.
소스
Frontiers in Neurology, Vol 12 (2021)
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7 . Academic Journal
A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability
저자
by
Mattia Bonzanni
;
Jacopo C. DiFrancesco
;
Raffaella Milanesi
;
Giulia Campostrini
;
Barbara Castellotti
, et al.
소스
Neurobiology of Disease, Vol 118, Iss , Pp 55-63 (2018)
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7 . Academic Journal
A Loss-of-Function HCN4 Mutation Associated With Familial Benign Myoclonic Epilepsy in Infancy Causes Increased Neuronal Excitability
저자
by
Giulia Campostrini
;
Jacopo C. DiFrancesco
;
Barbara Castellotti
;
Raffaella Milanesi
;
Tomaso Gnecchi-Ruscone
, et al.
소스
Frontiers in Molecular Neuroscience, Vol 11 (2018)
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