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

  • 18 Similar Profiles
Epilepsy Medicine & Life Sciences
Intellectual Disability Medicine & Life Sciences
Genes Medicine & Life Sciences
Juvenile Myoclonic Epilepsy Medicine & Life Sciences
Exome Medicine & Life Sciences
Sural Nerve Medicine & Life Sciences
AMPA Receptors Medicine & Life Sciences
Temporal Lobe Epilepsy Medicine & Life Sciences

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Research Output 2016 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SYNAPS Study Group, Dec 1 2019, In : Nature Communications. 10, 1, 3094.

Research output: Contribution to journalArticle

Open Access
AMPA Receptors
mutations
disabilities
Brain Diseases
disorders

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

SKABAR ALDO, 2019, In : Nature Communications. 10, 1

Research output: Contribution to journalArticle

Diagnostic implications of genetic copy number variation in epilepsy plus

EuroEPINOMICS RES Consortium, Apr 2019, In : Epilepsia. 60, 4, p. 689-706 18 p.

Research output: Contribution to journalArticle

Epilepsy
Workflow
Genes
Absence Epilepsy
Comparative Genomic Hybridization

Early onset PFAPA-like syndrome in a child with microduplication of the 7q11.23

Papa, R., Dell'Orso, G., Caorsi, R., Madia, F., Falcini, F. & Picco, P., Jul 10 2019, In : Clin. Exp. Rheumatol.. 37 Suppl 121, 6, p. 163

Research output: Contribution to journalArticle

High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome

Bernardo, P., Del Gaudio, L., Madia, F., Marino, M., Santoro, C., Caccavale, C., Striano, S., Bravaccio, C. & Coppola, A., Apr 18 2019, In : Neurocase. 25, 1-2, p. 62-65 4 p.

Research output: Contribution to journalArticle

Epilepsy
Phenotype
Chromosomes, Human, Pair 15
Language Development
Muscle Hypotonia