Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Carolina Courage; Karen L. Oliver; Eon Joo Park; Jillian M. Cameron; Kariona A. Grabinska; Mikko Muona; Laura Canafoglia; Antonio Gambardella; Edith Said; Zaid Afawi; Betul Baykan; Christian Brandt; Carlo di Bonaventura; Hui Bein Chew; Chiara Criscuolo; Leanne M. Dibbens; Barbara Castellotti; Patrizia Riguzzi; Angelo Labate; Alessandro Filla; Anna T. Giallonardo; Geza Berecki; Christopher B. Jackson; Tarja Joensuu; John A. Damiano; Sara Kivity; Amos Korczyn; Aarno Palotie; Pasquale Striano; Davide Uccellini; Loretta Giuliano; Eva Andermann; Ingrid E. Scheffer; Roberto Michelucci; Melanie Bahlo; Silvana Franceschetti; William C. Sessa; Samuel F. Berkovic; Anna-Elina Lehesjoki

doi:10.1016/j.ajhg.2021.03.013

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

Carolina Courage, Karen L. Oliver, Eon Joo Park, Jillian M. Cameron, Kariona A. Grabinska, Mikko Muona, Laura Canafoglia, Antonio Gambardella, Edith Said, Zaid Afawi, Betul Baykan, Christian Brandt, Carlo di Bonaventura, Hui Bein Chew, Chiara Criscuolo, Leanne M. Dibbens, Barbara Castellotti, Patrizia Riguzzi, Angelo Labate, Alessandro FillaAnna T. Giallonardo, Geza Berecki, Christopher B. Jackson, Tarja Joensuu, John A. Damiano, Sara Kivity, Amos Korczyn, Aarno Palotie, Pasquale Striano, Davide Uccellini, Loretta Giuliano, Eva Andermann, Ingrid E. Scheffer, Roberto Michelucci, Melanie Bahlo, Silvana Franceschetti, William C. Sessa, Samuel F. Berkovic, Anna-Elina Lehesjoki

Research output: Contribution to journal › Article › Scientific › peer-review

Original language	English
Journal	American Journal of Human Genetics
Volume	108
Issue number	4
Pages (from-to)	722-738
Number of pages	17
ISSN	0002-9297
DOIs	https://doi.org/10.1016/j.ajhg.2021.03.013
Publication status	Published - 1 Apr 2021
MoE publication type	A1 Journal article-refereed

Fields of Science

3111 Biomedicine
1184 Genetics, developmental biology, physiology

Access to Document

10.1016/j.ajhg.2021.03.013

CourageAccepted author manuscript, 1.91 MBLicence: CC BY-NC-ND

Cite this

Courage, C., Oliver, K. L., Park, E. J., Cameron, J. M., Grabinska, K. A., Muona, M., Canafoglia, L., Gambardella, A., Said, E., Afawi, Z., Baykan, B., Brandt, C., di Bonaventura, C., Chew, H. B., Criscuolo, C., Dibbens, L. M., Castellotti, B., Riguzzi, P., Labate, A., ... Lehesjoki, A.-E. (2021). Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. American Journal of Human Genetics, 108(4), 722-738. https://doi.org/10.1016/j.ajhg.2021.03.013

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title = "Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes",

keywords = "3111 Biomedicine, 1184 Genetics, developmental biology, physiology",

author = "Carolina Courage and Oliver, {Karen L.} and Park, {Eon Joo} and Cameron, {Jillian M.} and Grabinska, {Kariona A.} and Mikko Muona and Laura Canafoglia and Antonio Gambardella and Edith Said and Zaid Afawi and Betul Baykan and Christian Brandt and {di Bonaventura}, Carlo and Chew, {Hui Bein} and Chiara Criscuolo and Dibbens, {Leanne M.} and Barbara Castellotti and Patrizia Riguzzi and Angelo Labate and Alessandro Filla and Giallonardo, {Anna T.} and Geza Berecki and Jackson, {Christopher B.} and Tarja Joensuu and Damiano, {John A.} and Sara Kivity and Amos Korczyn and Aarno Palotie and Pasquale Striano and Davide Uccellini and Loretta Giuliano and Eva Andermann and Scheffer, {Ingrid E.} and Roberto Michelucci and Melanie Bahlo and Silvana Franceschetti and Sessa, {William C.} and Berkovic, {Samuel F.} and Anna-Elina Lehesjoki",

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day = "1",

doi = "10.1016/j.ajhg.2021.03.013",

language = "English",

volume = "108",

pages = "722--738",

journal = "American Journal of Human Genetics",

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Courage, C, Oliver, KL, Park, EJ, Cameron, JM, Grabinska, KA, Muona, M, Canafoglia, L, Gambardella, A, Said, E, Afawi, Z, Baykan, B, Brandt, C, di Bonaventura, C, Chew, HB, Criscuolo, C, Dibbens, LM, Castellotti, B, Riguzzi, P, Labate, A, Filla, A, Giallonardo, AT, Berecki, G, Jackson, CB , Joensuu, T, Damiano, JA, Kivity, S, Korczyn, A, Palotie, A, Striano, P, Uccellini, D, Giuliano, L, Andermann, E, Scheffer, IE, Michelucci, R, Bahlo, M, Franceschetti, S, Sessa, WC, Berkovic, SF & Lehesjoki, A-E 2021, 'Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes', American Journal of Human Genetics, vol. 108, no. 4, pp. 722-738. https://doi.org/10.1016/j.ajhg.2021.03.013

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes. / Courage, Carolina; Oliver, Karen L.; Park, Eon Joo et al.
In: American Journal of Human Genetics, Vol. 108, No. 4, 01.04.2021, p. 722-738.

Research output: Contribution to journal › Article › Scientific › peer-review

TY - JOUR

T1 - Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

AU - Courage, Carolina

AU - Oliver, Karen L.

AU - Park, Eon Joo

AU - Cameron, Jillian M.

AU - Grabinska, Kariona A.

AU - Muona, Mikko

AU - Canafoglia, Laura

AU - Gambardella, Antonio

AU - Said, Edith

AU - Afawi, Zaid

AU - Baykan, Betul

AU - Brandt, Christian

AU - di Bonaventura, Carlo

AU - Chew, Hui Bein

AU - Criscuolo, Chiara

AU - Dibbens, Leanne M.

AU - Castellotti, Barbara

AU - Riguzzi, Patrizia

AU - Labate, Angelo

AU - Filla, Alessandro

AU - Giallonardo, Anna T.

AU - Berecki, Geza

AU - Jackson, Christopher B.

AU - Joensuu, Tarja

AU - Damiano, John A.

AU - Kivity, Sara

AU - Korczyn, Amos

AU - Palotie, Aarno

AU - Striano, Pasquale

AU - Uccellini, Davide

AU - Giuliano, Loretta

AU - Andermann, Eva

AU - Scheffer, Ingrid E.

AU - Michelucci, Roberto

AU - Bahlo, Melanie

AU - Franceschetti, Silvana

AU - Sessa, William C.

AU - Berkovic, Samuel F.

AU - Lehesjoki, Anna-Elina

PY - 2021/4/1

Y1 - 2021/4/1

KW - 3111 Biomedicine

KW - 1184 Genetics, developmental biology, physiology

U2 - 10.1016/j.ajhg.2021.03.013

DO - 10.1016/j.ajhg.2021.03.013

M3 - Article

SN - 0002-9297

VL - 108

SP - 722

EP - 738

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 4

ER -