PIGN encephalopathy: Characterizing the epileptology.

Allan Bayat; Guillem de Valles-Ibáñez; Manuela Pendziwiat; Alexej Knaus; Kerstin Alt; Elisa Biamino; Annette Bley; Sophie Calvert; Patrick Carney; Alfonso Caro-Llopis; Berten Ceulemans; Janice Cousin; Suzanne Davis; Vincent des Portes; Patrick Edery; Eleina England; Carlos Ferreira; Jeremy Freeman; Blanca Gener; Magali Gorce; Delphine Heron; Michael S Hildebrand; Aleksandra Jezela-Stanek; Pierre-Simon Jouk; Boris Keren; Katja Kloth; Gerhard Kluger; Marius Kuhn; Johannes R Lemke; Hong Li; Francisco Martinez; Caroline Maxton; Heather C Mefford; Giuseppe Merla; Hanna Mierzewska; Alison Muir; Sandra Monfort; Joost Nicolai; Jennifer Norman; Gina O"Grady; Barbara Oleksy; Carmen Orellana; Laura Elena Orec; Charlotte Peinhardt; Ewa Pronicka; Monica Rosello; Fernando Santos-Simarro; Eva Maria Christina Schwaibold; Alexander P A Stegmann; Constance T Stumpel; Elzbieta Szczepanik; Iwona Terczyńska; Julien Thevenon; Andreas Tzschach; Patrick Van Bogaert; Roberta Vittorini; Sonja Walsh; Sarah Weckhuysen; Barbara Weissman; Lynne Wolfe; Alexandre Reymond; Pasquelena De Nittis; Annapurna Poduri; Heather Olson; Pasquale Striano; Gaetan Lesca; Ingrid E Scheffer; Rikke S Møller; Lynette G Sadleir

doi:10.1111/epi.17173

PIGN encephalopathy: Characterizing the epileptology.

Allan Bayat
, Guillem de Valles-Ibáñez
, Manuela Pendziwiat
, Alexej Knaus
, Kerstin Alt
, Elisa Biamino
, Annette Bley
, Sophie Calvert
, Patrick Carney
, Alfonso Caro-Llopis
, Berten Ceulemans
, Janice Cousin
, Suzanne Davis
, Vincent des Portes
, Patrick Edery
, Eleina England
, Carlos Ferreira
, Jeremy Freeman
, Blanca Gener
, Magali Gorce

Delphine Heron, Michael S Hildebrand, Aleksandra Jezela-Stanek, Pierre-Simon Jouk, Boris Keren, Katja Kloth, Gerhard Kluger (Co-Autor/-in), Marius Kuhn, Johannes R Lemke, Hong Li, Francisco Martinez, Caroline Maxton, Heather C Mefford, Giuseppe Merla, Hanna Mierzewska, Alison Muir, Sandra Monfort, Joost Nicolai, Jennifer Norman, Gina O"Grady, Barbara Oleksy, Carmen Orellana, Laura Elena Orec, Charlotte Peinhardt, Ewa Pronicka, Monica Rosello, Fernando Santos-Simarro, Eva Maria Christina Schwaibold, Alexander P A Stegmann, Constance T Stumpel, Elzbieta Szczepanik, Iwona Terczyńska, Julien Thevenon, Andreas Tzschach, Patrick Van Bogaert, Roberta Vittorini, Sonja Walsh, Sarah Weckhuysen, Barbara Weissman, Lynne Wolfe, Alexandre Reymond, Pasquelena De Nittis, Annapurna Poduri, Heather Olson, Pasquale Striano, Gaetan Lesca, Ingrid E Scheffer, Rikke S Møller, Lynette G Sadleir

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

9 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	974-991
Fachzeitschrift	EPILEPSIA
Jahrgang	63
Ausgabenummer	4
DOIs	https://doi.org/10.1111/epi.17173
Publikationsstatus	Veröffentlicht - 2022

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10.1111/epi.17173

Dieses zitieren

Bayat, A., de Valles-Ibáñez, G., Pendziwiat, M., Knaus, A., Alt, K., Biamino, E., Bley, A., Calvert, S., Carney, P., Caro-Llopis, A., Ceulemans, B., Cousin, J., Davis, S., des Portes, V., Edery, P., England, E., Ferreira, C., Freeman, J., Gener, B., ... Sadleir, L. G. (2022). PIGN encephalopathy: Characterizing the epileptology. EPILEPSIA, 63(4), 974-991. https://doi.org/10.1111/epi.17173

@article{075415d5affe4264ba4a8bc1e8e519de,

title = "PIGN encephalopathy: Characterizing the epileptology.",

keywords = "HYPOTONIA-SEIZURES SYNDROME, CONGENITAL-ANOMALIES, PRENATAL-DIAGNOSIS, MUTATION, PHENOTYPE, PROTEINS, EPILEPSY",

author = "Allan Bayat and \{de Valles-Ib{\'a}{\~n}ez\}, Guillem and Manuela Pendziwiat and Alexej Knaus and Kerstin Alt and Elisa Biamino and Annette Bley and Sophie Calvert and Patrick Carney and Alfonso Caro-Llopis and Berten Ceulemans and Janice Cousin and Suzanne Davis and \{des Portes\}, Vincent and Patrick Edery and Eleina England and Carlos Ferreira and Jeremy Freeman and Blanca Gener and Magali Gorce and Delphine Heron and Hildebrand, \{Michael S\} and Aleksandra Jezela-Stanek and Pierre-Simon Jouk and Boris Keren and Katja Kloth and Gerhard Kluger and Marius Kuhn and Lemke, \{Johannes R\} and Hong Li and Francisco Martinez and Caroline Maxton and Mefford, \{Heather C\} and Giuseppe Merla and Hanna Mierzewska and Alison Muir and Sandra Monfort and Joost Nicolai and Jennifer Norman and Gina O{"}Grady and Barbara Oleksy and Carmen Orellana and Orec, \{Laura Elena\} and Charlotte Peinhardt and Ewa Pronicka and Monica Rosello and Fernando Santos-Simarro and Schwaibold, \{Eva Maria Christina\} and Stegmann, \{Alexander P A\} and Stumpel, \{Constance T\} and Elzbieta Szczepanik and Iwona Terczy{\'n}ska and Julien Thevenon and Andreas Tzschach and \{Van Bogaert\}, Patrick and Roberta Vittorini and Sonja Walsh and Sarah Weckhuysen and Barbara Weissman and Lynne Wolfe and Alexandre Reymond and \{De Nittis\}, Pasquelena and Annapurna Poduri and Heather Olson and Pasquale Striano and Gaetan Lesca and Scheffer, \{Ingrid E\} and M{\o}ller, \{Rikke S\} and Sadleir, \{Lynette G\}",

note = "Anmerkung: Affiliation wurde vergessen!",

year = "2022",

doi = "10.1111/epi.17173",

language = "English",

volume = "63",

pages = "974--991",

journal = "EPILEPSIA",

issn = "0013-9580",

publisher = "Wiley Verlag ",

number = "4",

}

Bayat, A, de Valles-Ibáñez, G, Pendziwiat, M, Knaus, A, Alt, K, Biamino, E, Bley, A, Calvert, S, Carney, P, Caro-Llopis, A, Ceulemans, B, Cousin, J, Davis, S, des Portes, V, Edery, P, England, E, Ferreira, C, Freeman, J, Gener, B, Gorce, M, Heron, D, Hildebrand, MS, Jezela-Stanek, A, Jouk, P-S, Keren, B, Kloth, K, Kluger, G, Kuhn, M, Lemke, JR, Li, H, Martinez, F, Maxton, C, Mefford, HC, Merla, G, Mierzewska, H, Muir, A, Monfort, S, Nicolai, J, Norman, J, O"Grady, G, Oleksy, B, Orellana, C, Orec, LE, Peinhardt, C, Pronicka, E, Rosello, M, Santos-Simarro, F, Schwaibold, EMC, Stegmann, APA, Stumpel, CT, Szczepanik, E, Terczyńska, I, Thevenon, J, Tzschach, A, Van Bogaert, P, Vittorini, R, Walsh, S, Weckhuysen, S, Weissman, B, Wolfe, L, Reymond, A, De Nittis, P, Poduri, A, Olson, H, Striano, P, Lesca, G, Scheffer, IE, Møller, RS & Sadleir, LG 2022, 'PIGN encephalopathy: Characterizing the epileptology.', EPILEPSIA, Jg. 63, Nr. 4, S. 974-991. https://doi.org/10.1111/epi.17173

TY - JOUR

T1 - PIGN encephalopathy: Characterizing the epileptology.

AU - Bayat, Allan

AU - de Valles-Ibáñez, Guillem

AU - Pendziwiat, Manuela

AU - Knaus, Alexej

AU - Alt, Kerstin

AU - Biamino, Elisa

AU - Bley, Annette

AU - Calvert, Sophie

AU - Carney, Patrick

AU - Caro-Llopis, Alfonso

AU - Ceulemans, Berten

AU - Cousin, Janice

AU - Davis, Suzanne

AU - des Portes, Vincent

AU - Edery, Patrick

AU - England, Eleina

AU - Ferreira, Carlos

AU - Freeman, Jeremy

AU - Gener, Blanca

AU - Gorce, Magali

AU - Heron, Delphine

AU - Hildebrand, Michael S

AU - Jezela-Stanek, Aleksandra

AU - Jouk, Pierre-Simon

AU - Keren, Boris

AU - Kloth, Katja

AU - Kluger, Gerhard

AU - Kuhn, Marius

AU - Lemke, Johannes R

AU - Li, Hong

AU - Martinez, Francisco

AU - Maxton, Caroline

AU - Mefford, Heather C

AU - Merla, Giuseppe

AU - Mierzewska, Hanna

AU - Muir, Alison

AU - Monfort, Sandra

AU - Nicolai, Joost

AU - Norman, Jennifer

AU - O"Grady, Gina

AU - Oleksy, Barbara

AU - Orellana, Carmen

AU - Orec, Laura Elena

AU - Peinhardt, Charlotte

AU - Pronicka, Ewa

AU - Rosello, Monica

AU - Santos-Simarro, Fernando

AU - Schwaibold, Eva Maria Christina

AU - Stegmann, Alexander P A

AU - Stumpel, Constance T

AU - Szczepanik, Elzbieta

AU - Terczyńska, Iwona

AU - Thevenon, Julien

AU - Tzschach, Andreas

AU - Van Bogaert, Patrick

AU - Vittorini, Roberta

AU - Walsh, Sonja

AU - Weckhuysen, Sarah

AU - Weissman, Barbara

AU - Wolfe, Lynne

AU - Reymond, Alexandre

AU - De Nittis, Pasquelena

AU - Poduri, Annapurna

AU - Olson, Heather

AU - Striano, Pasquale

AU - Lesca, Gaetan

AU - Scheffer, Ingrid E

AU - Møller, Rikke S

AU - Sadleir, Lynette G

N1 - Anmerkung: Affiliation wurde vergessen!

PY - 2022

Y1 - 2022

KW - HYPOTONIA-SEIZURES SYNDROME

KW - CONGENITAL-ANOMALIES

KW - PRENATAL-DIAGNOSIS

KW - MUTATION

KW - PHENOTYPE

KW - PROTEINS

KW - EPILEPSY

U2 - 10.1111/epi.17173

DO - 10.1111/epi.17173

M3 - Original Article

C2 - 35179230

SN - 0013-9580

VL - 63

SP - 974

EP - 991

JO - EPILEPSIA

JF - EPILEPSIA

IS - 4

ER -