Infantile epileptic spasms syndrome in children with cardiofaciocutanous syndrome: Clinical presentation and associations with genotype

Author:

Kenney‐Jung Daniel L.1,Rogers Dante J.2,Kroening Samuel J.2,Zatkalik Abigail L.2,Whitmarsh Ashley E.2,Roberts Amy E.3,Zenker Martin4ORCID,Gambardella Maria Luigia5,Contaldo Ilaria5,Leoni Chiara6ORCID,Onesimo Roberta6,Zampino Giuseppe6,Tartaglia Marco7ORCID,Battaglia Domenica I.58,Pierpont Elizabeth I.2ORCID

Affiliation:

1. Department of Neurology University of Minnesota Medical School Minneapolis Minnesota USA

2. Department of Pediatrics University of Minnesota Medical School Minneapolis Minnesota USA

3. Division of Genetics and Genomics, Department of Cardiology and Department of Pediatrics Boston Children's Hospital Boston Massachusetts USA

4. Institute of Human Genetics University Hospital, Otto‐von‐Guericke University Magdeburg Magdeburg Germany

5. Pediatric Neuropsychiatry Fondazione Policlinico Universitario Agostino Gemelli IRCCS Rome Italy

6. Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS Rome Italy

7. Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Gesù, IRCCS Rome Italy

8. Dipartimento Scienze della Vita Università Cattolica del Sacro Cuore Rome Italy

Funder

Associazione Italiana per la Ricerca sul Cancro

National Institutes of Health

Rare Disease Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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