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Fingerprint Dive into the research topics where Laura Canafoglia is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 35 Similar Profiles
Myoclonus Medicine & Life Sciences
Electroencephalography Medicine & Life Sciences
Progressive Myoclonic Epilepsy Medicine & Life Sciences
Unverricht-Lundborg Syndrome Medicine & Life Sciences
Seizures Medicine & Life Sciences
Epilepsy Medicine & Life Sciences
Mutation Medicine & Life Sciences
Lafora Disease Medicine & Life Sciences

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Research Output 1996 2019

Connectivity measures suggest a sub-cortical generator of myoclonus in Angelman syndrome

Ferlazzo, E., Franceschetti, S., Gasparini, S., Elia, M., Canafoglia, L., Pantaleoni, C., Ascoli, M., D'Agostino, T., Sueri, C., Ferrigno, G., Panzica, F., Cianci, V. & Aguglia, U., Dec 2019, In : Clinical Neurophysiology. 130, 12, p. 2231-2237 7 p.

Research output: Contribution to journalArticle

Angelman Syndrome
Myoclonus
Electroencephalography
Control Groups
Muscles

Progressive myoclonus epilepsy caused by a gain-of-function KCNA2 mutation

Canafoglia, L., Castellotti, B., Ragona, F., Freri, E., Granata, T., Chiapparini, L., Gellera, C., Scaioli, V., Franceschetti, S. & DiFrancesco, J. C., Feb 1 2019, In : Seizure. 65, p. 106-108 3 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

A loss-of-function HCN4 mutation associated with familial benign myoclonic epilepsy in infancy causes increased neuronal excitability

Campostrini, G., Difrancesco, J. C., Castellotti, B., Milanesi, R., Gnecchi-Ruscone, T., Bonzanni, M., Bucchi, A., Baruscotti, M., Ferrarese, C., Franceschetti, S., Canafoglia, L., Ragona, F., Freri, E., Labate, A., Gambardella, A., Costa, C., Gellera, C., Granata, T., Barbuti, A. & Difrancesco, D., Jan 1 2018, In : Frontiers in Molecular Neuroscience. 11, 269.

Research output: Contribution to journalArticle

Myoclonic Epilepsy
Epilepsy
Mutation
Neurons
Brain

ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype

Nanetti, L., Sarto, E., Castaldo, A., Magri, S., Mongelli, A., Rossi Sebastiano, D., Canafoglia, L., Grisoli, M., Malaguti, C., Rivieri, F., D’Amico, M. C., Di Bella, D., Franceschetti, S., Mariotti, C. & Taroni, F., Jan 1 2018, (Accepted/In press) In : Journal of Neurology.

Research output: Contribution to journalArticle

Ataxia
Cerebellar Ataxia
Phenotype
Genes
Hypokinesia
4 Citations (Scopus)

A novel de novo HCN1 loss-of-function mutation in genetic generalized epilepsy causing increased neuronal excitability

Bonzanni, M., DiFrancesco, J. C., Milanesi, R., Campostrini, G., Castellotti, B., Bucchi, A., Baruscotti, M., Ferrarese, C., Franceschetti, S., Canafoglia, L., Ragona, F., Freri, E., Labate, A., Gambardella, A., Costa, C., Rivolta, I., Gellera, C., Granata, T., Barbuti, A. & DiFrancesco, D., Oct 1 2018, In : Neurobiology of Disease. 118, p. 55-63 9 p.

Research output: Contribution to journalArticle

Generalized Epilepsy
Epilepsy
Mutation
Brain Diseases
Neurons