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Castellotti, Barbara
147  results:
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1

Novel lissencephaly-associated NDEL1 variant reveals distin..:

Tsai, Meng-Han ; Ke, Hao-Chen ; Lin, Wan-Cian...
Acta Neuropathologica.  147 (2024)  1 - p. , 2024
Link: https://doi.org/10.1007/..
 
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2

Case report: Marked electroclinical improvement by fluoxeti..:

Mosca, Ilaria ; Freri, Elena ; Ambrosino, Paolo...
Frontiers in Cellular Neuroscience.  18 (2024)  - p. , 2024
Link: https://doi.org/10.3389/..
 
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3

Progressive myoclonus epilepsies due to SEMA6B mutations. N..:

Castellotti, Barbara ; Canafoglia, Laura ; Freri, Elena...
Epilepsia Open.  8 (2023)  2 - p. 645-650 , 2023
Link: https://doi.org/10.1002/..
 
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4

Clinical and Neurophysiologic Phenotypes in Neonates WithBR..:

Carapancea, Evelina ; Cornet, Marie-Coralie ; Milh, Mathieu...
Neurology.  100 (2023)  12 - p. , 2023
Link: https://doi.org/10.1212/..
 
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5

Case report: A novel pathogenic FRMD7 variant in a Turner s..:

Hafdaoui, Sara ; Ciaccio, Claudia ; Castellotti, Barbara...
Frontiers in Neurology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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6

Abnormalities of lipid metabolism in neuronal models of CoQ..:

Pesini, Alba ; Monzio-Compagnoni, Giacomo ; Barriocanal-Casado, Eliana...
Neurology.  100 (2023)  17_supplement_2 - p. , 2023
Link: https://doi.org/10.1212/..
 
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7

Case report: SLC6A1 mutations presenting with isolated abse..:

Caputo, Davide ; Franceschetti, Silvana ; Castellotti, Barbara...
Frontiers in Neuroscience.  17 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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8

A novel KCNC1 gain‐of‐function variant causing developmenta..:

Ambrosino, Paolo ; Ragona, Francesca ; Mosca, Ilaria...
Epilepsia.  64 (2023)  7 - p. , 2023
Link: https://doi.org/10.1111/..
 
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9

Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome:

Solazzi, Roberta ; Nanni, Giuliana ; Esposito, Silvia...
Pediatric Neurology.  147 (2023)  - p. 24-27 , 2023
Link: https://doi.org/10.1016/..
 
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10

A novel de novo HCN2 loss‐of‐function variant causing devel..:

DiFrancesco, Jacopo C. ; Ragona, Francesca ; Murano, Carmen...
Epilepsia.  64 (2023)  12 - p. , 2023
Link: https://doi.org/10.1111/..
 
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11

Successful use of perampanel in GABRA1-related myoclonic ep..:

Olivotto, Sara ; Freddi, Anna ; Lavatelli, Rossella...
Epilepsy & Behavior Reports.  19 (2022)  - p. 100544 , 2022
Link: https://doi.org/10.1016/..
 
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12

Functional Characterization of Two Variants at the Intron 6..:

Mosca, Ilaria ; Rivolta, Ilaria ; Labalme, Audrey...
Frontiers in Pharmacology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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13

Paroxysmal tonic upgaze in a child with SCN8A‐related encep..:

Solazzi, Roberta ; Castellotti, Barbara ; Canafoglia, Laura...
Epileptic Disorders.  23 (2021)  4 - p. 643-647 , 2021
Link: https://doi.org/10.1684/..
 
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14

Severe epilepsy in CNTNAP2-related Pitt-Hopkins-like syndro..:

Freri, Elena ; Castellotti, Barbara ; Canafoglia, Laura...
Seizure.  88 (2021)  - p. 143-145 , 2021
Link: https://doi.org/10.1016/..
 
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15

Do the functional properties of HCN1 mutants correlate with..:

Porro, Alessandro ; Abbandonato, Gerardo ; Veronesi, Valentina...
Progress in Biophysics and Molecular Biology.  166 (2021)  - p. 147-155 , 2021
Link: https://doi.org/10.1016/..
 
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