Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.

Francesco Nicita; Giacomo Garone; Alberto Spalice; Salvatore Savasta; Pasquale Striano; Chiara Pantaleoni; Maria Valentina Spartà; Gerhard Kluger; Giuseppe Capovilla; Dario Pruna; Elena Freri; Stefano D"Arrigo; Alberto Verrotti

doi:10.1002/ajmg.a.37410

Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.

Francesco Nicita, Giacomo Garone, Alberto Spalice, Salvatore Savasta, Pasquale Striano, Chiara Pantaleoni, Maria Valentina Spartà, Gerhard Kluger (Co-Autor/-in), Giuseppe Capovilla, Dario Pruna, Elena Freri, Stefano D"Arrigo, Alberto Verrotti

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

33 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	148-155
Fachzeitschrift	AM J MED GENET PART A
Jahrgang	170
Ausgabenummer	1
DOIs	https://doi.org/10.1002/ajmg.a.37410
Publikationsstatus	Veröffentlicht - 2016

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10.1002/ajmg.a.37410

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Nicita, F., Garone, G., Spalice, A., Savasta, S., Striano, P., Pantaleoni, C., Spartà, M. V., Kluger, G., Capovilla, G., Pruna, D., Freri, E., D"Arrigo, S., & Verrotti, A. (2016). Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region. AM J MED GENET PART A, 170(1), 148-155. https://doi.org/10.1002/ajmg.a.37410

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title = "Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.",

keywords = "INFANTILE SPASMS, INTERSTITIAL DELETION, MAGI2, GENE, 7Q",

author = "Francesco Nicita and Giacomo Garone and Alberto Spalice and Salvatore Savasta and Pasquale Striano and Chiara Pantaleoni and Spart{\`a}, {Maria Valentina} and Gerhard Kluger and Giuseppe Capovilla and Dario Pruna and Elena Freri and Stefano D{"}Arrigo and Alberto Verrotti",

note = "Kluger: Sch{\"o}n Klinik Vogtareuth, Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany",

year = "2016",

doi = "10.1002/ajmg.a.37410",

language = "English",

volume = "170",

pages = "148--155",

journal = "AM J MED GENET PART A",

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Nicita, F, Garone, G, Spalice, A, Savasta, S, Striano, P, Pantaleoni, C, Spartà, MV, Kluger, G, Capovilla, G, Pruna, D, Freri, E, D"Arrigo, S & Verrotti, A 2016, 'Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.', AM J MED GENET PART A, Jg. 170, Nr. 1, S. 148-155. https://doi.org/10.1002/ajmg.a.37410

TY - JOUR

T1 - Epilepsy is a possible feature in Williams-Beuren syndrome patients harboring typical deletions of the 7q11.23 critical region.

AU - Nicita, Francesco

AU - Garone, Giacomo

AU - Spalice, Alberto

AU - Savasta, Salvatore

AU - Striano, Pasquale

AU - Pantaleoni, Chiara

AU - Spartà, Maria Valentina

AU - Kluger, Gerhard

AU - Capovilla, Giuseppe

AU - Pruna, Dario

AU - Freri, Elena

AU - D"Arrigo, Stefano

AU - Verrotti, Alberto

N1 - Kluger: Schön Klinik Vogtareuth, Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Vogtareuth, Germany

PY - 2016

Y1 - 2016

KW - INFANTILE SPASMS

KW - INTERSTITIAL DELETION

KW - MAGI2

KW - GENE

KW - 7Q

U2 - 10.1002/ajmg.a.37410

DO - 10.1002/ajmg.a.37410

M3 - Original Article

C2 - 26437767

SN - 1552-4825

VL - 170

SP - 148

EP - 155

JO - AM J MED GENET PART A

JF - AM J MED GENET PART A

IS - 1

ER -