Progressive Myoclonus Epilepsies Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases

Laura Canafoglia; Silvana Franceschetti; Antonio Gambardella; Pasquale Striano; Anna Teresa Giallonardo; Paolo Tinuper; Carlo Di Bonaventura; Roberto Michelucci; Edoardo Ferlazzo; Tiziana Granata; Adriana Magaudda; Laura Licchetta; Alessandro Filla; Angela La Neve; Patrizia Riguzzi; Teresa Anna Cantisani; Martina Fanella; Barbara Castellotti; Cinzia Gellera; Melanie Bahlo; Federico Zara; Carolina Courage; Anna-Elina Lehesjoki; Karen L. Oliver; Samuel F. Berkovic

doi:10.1212/NXG.0000000000000641

Progressive Myoclonus Epilepsies Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases

Laura Canafoglia, Silvana Franceschetti, Antonio Gambardella, Pasquale Striano, Anna Teresa Giallonardo, Paolo Tinuper, Carlo Di Bonaventura, Roberto Michelucci, Edoardo Ferlazzo, Tiziana Granata, Adriana Magaudda, Laura Licchetta, Alessandro Filla, Angela La Neve, Patrizia Riguzzi, Teresa Anna Cantisani, Martina Fanella, Barbara Castellotti, Cinzia Gellera, Melanie BahloFederico Zara, Carolina Courage, Anna-Elina Lehesjoki, Karen L. Oliver, Samuel F. Berkovic

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Artikkeli	641
Lehti	Neurology Genetics
Vuosikerta	7
Numero	6
Sivumäärä	6
ISSN	2376-7839
DOI - pysyväislinkit	https://doi.org/10.1212/NXG.0000000000000641
Tila	Julkaistu - jouluk. 2021
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

3121 Yleislääketiede, sisätaudit ja muut kliiniset lääketieteet
3112 Neurotieteet
3124 Neurologia ja psykiatria

Pääsy asiakirjaan

10.1212/NXG.0000000000000641

e641.fullLopullinen julkaistu versio, 353 KBLisenssi: CC BY-NC-ND

Siteeraa tätä

Canafoglia, L., Franceschetti, S., Gambardella, A., Striano, P., Giallonardo, A. T., Tinuper, P., Di Bonaventura, C., Michelucci, R., Ferlazzo, E., Granata, T., Magaudda, A., Licchetta, L., Filla, A., La Neve, A., Riguzzi, P., Cantisani, T. A., Fanella, M., Castellotti, B., Gellera, C., ... Berkovic, S. F. (2021). Progressive Myoclonus Epilepsies Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases. Neurology Genetics, 7(6), Artikkeli 641. https://doi.org/10.1212/NXG.0000000000000641

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title = "Progressive Myoclonus Epilepsies Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases",

keywords = "3121 General medicine, internal medicine and other clinical medicine, 3112 Neurosciences, 3124 Neurology and psychiatry",

author = "Laura Canafoglia and Silvana Franceschetti and Antonio Gambardella and Pasquale Striano and Giallonardo, {Anna Teresa} and Paolo Tinuper and {Di Bonaventura}, Carlo and Roberto Michelucci and Edoardo Ferlazzo and Tiziana Granata and Adriana Magaudda and Laura Licchetta and Alessandro Filla and {La Neve}, Angela and Patrizia Riguzzi and Cantisani, {Teresa Anna} and Martina Fanella and Barbara Castellotti and Cinzia Gellera and Melanie Bahlo and Federico Zara and Carolina Courage and Anna-Elina Lehesjoki and Oliver, {Karen L.} and Berkovic, {Samuel F.}",

year = "2021",

month = dec,

doi = "10.1212/NXG.0000000000000641",

language = "English",

volume = "7",

journal = "Neurology Genetics",

issn = "2376-7839",

publisher = "Lippincott williams & wilkins",

number = "6",

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Canafoglia, L, Franceschetti, S, Gambardella, A, Striano, P, Giallonardo, AT, Tinuper, P, Di Bonaventura, C, Michelucci, R, Ferlazzo, E, Granata, T, Magaudda, A, Licchetta, L, Filla, A, La Neve, A, Riguzzi, P, Cantisani, TA, Fanella, M, Castellotti, B, Gellera, C, Bahlo, M, Zara, F, Courage, C , Lehesjoki, A-E, Oliver, KL & Berkovic, SF 2021, 'Progressive Myoclonus Epilepsies Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases', Neurology Genetics, Vuosikerta 7, Nro 6, 641. https://doi.org/10.1212/NXG.0000000000000641

TY - JOUR

T1 - Progressive Myoclonus Epilepsies Diagnostic Yield With Next-Generation Sequencing in Previously Unsolved Cases

AU - Canafoglia, Laura

AU - Franceschetti, Silvana

AU - Gambardella, Antonio

AU - Striano, Pasquale

AU - Giallonardo, Anna Teresa

AU - Tinuper, Paolo

AU - Di Bonaventura, Carlo

AU - Michelucci, Roberto

AU - Ferlazzo, Edoardo

AU - Granata, Tiziana

AU - Magaudda, Adriana

AU - Licchetta, Laura

AU - Filla, Alessandro

AU - La Neve, Angela

AU - Riguzzi, Patrizia

AU - Cantisani, Teresa Anna

AU - Fanella, Martina

AU - Castellotti, Barbara

AU - Gellera, Cinzia

AU - Bahlo, Melanie

AU - Zara, Federico

AU - Courage, Carolina

AU - Lehesjoki, Anna-Elina

AU - Oliver, Karen L.

AU - Berkovic, Samuel F.

PY - 2021/12

Y1 - 2021/12

KW - 3121 General medicine, internal medicine and other clinical medicine

KW - 3112 Neurosciences

KW - 3124 Neurology and psychiatry

U2 - 10.1212/NXG.0000000000000641

DO - 10.1212/NXG.0000000000000641

M3 - Article

SN - 2376-7839

VL - 7

JO - Neurology Genetics

JF - Neurology Genetics

IS - 6

M1 - 641

ER -