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

  • 35 Similar Profiles
Seizures Medicine & Life Sciences
Epilepsy Medicine & Life Sciences
etiracetam Medicine & Life Sciences
Myoclonic Epilepsy Medicine & Life Sciences
Electroencephalography Medicine & Life Sciences
Mutation Medicine & Life Sciences
Partial Epilepsy Medicine & Life Sciences
Brain Diseases Medicine & Life Sciences

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Research Output 1997 2020

A validation study of the clinical diagnosis of Dup15q syndrome: Which symptoms matter most?

Beghi, E., Giussani, G., Bianchi, E., Randazzo, G., Sarcona, V., Elia, M., Striano, P., Verrotti, A., Ferretti, A., Rebessi, E., Specchio, N. & Bonanni, P., Jan 2020, In : Seizure. 74, p. 26-30 5 p.

Research output: Contribution to journalArticle

Validation Studies
Signs and Symptoms
Muscle Hypotonia
Epilepsy
Inborn Genetic Diseases

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

Berardinelli-Seip syndrome and progressive myoclonus epilepsy

Serino, D., Davico, C., Specchio, N., Marras, C. E. & Fioretto, F., Feb 1 2019, In : Epileptic Disorders. 21, 1, p. 117-121 5 p.

Research output: Contribution to journalArticle

Congenital Generalized Lipodystrophy
Progressive Myoclonic Epilepsy
Seizures
Vagus Nerve
Mutation
Brain Diseases
Nervous System Malformations
Exome
Mutation
Intellectual Disability