All papers authored by Katherine Helbig
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2022
Aguan D. Wei 
,
Paul Wakenight,
Theresa A. Zwingman ,
Angela M. Bard,
Nikhil Sahai,
Marjolein H. Willemsen,
Helenius J. Schelhaas,
Alexander P. A. Stegmann ,
Judith S. Verhoeven,
Stella A. de Man ,
Marja W. Wessels,
Tjitske Kleefstra ,
Deepali N. Shinde,
Katherine L. Helbig ,
Alice Basinger
and 8 other authors
,
Paul Wakenight,
Theresa A. Zwingman ,
Angela M. Bard,
Nikhil Sahai,
Marjolein H. Willemsen,
Helenius J. Schelhaas,
Alexander P. A. Stegmann ,
Judith S. Verhoeven,
Stella A. de Man ,
Marja W. Wessels,
Tjitske Kleefstra ,
Deepali N. Shinde,
Katherine L. Helbig ,
Alice Basinger
and 8 other authors
Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability
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2021
Sarah E. Heron ,
Brigid M. Regan,
Rebekah V. Harris ,
Alison E. Gardner,
Matthew J. Coleman ,
Mark F. Bennett ,
Bronwyn E. Grinton,
Katherine L. Helbig ,
Michael R. Sperling,
Sheryl Haut,
Eric B. Geller,
Peter Widdess-Walsh,
James T. Pelekanos,
Melanie Bahlo ,
Slavé Petrovski
and 7 other authors
,
Brigid M. Regan,
Rebekah V. Harris ,
Alison E. Gardner,
Matthew J. Coleman ,
Mark F. Bennett ,
Bronwyn E. Grinton,
Katherine L. Helbig ,
Michael R. Sperling,
Sheryl Haut,
Eric B. Geller,
Peter Widdess-Walsh,
James T. Pelekanos,
Melanie Bahlo ,
Slavé Petrovski
and 7 other authors
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus
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2020
Tariq Zaman,
Katherine L. Helbig ,
Jérôme Clatot,
Christopher H. Thompson,
Seok Kyu Kang,
Katrien Stouffs,
Anna E. Jansen,
Lieve Verstraete,
Adeline Jacquinet,
Elena Parrini,
Renzo Guerrini,
Yuh Fujiwara,
Satoko Miyatake,
Bruria Ben‐Zeev,
Haim Bassan
and 21 other authors
,
Jérôme Clatot,
Christopher H. Thompson,
Seok Kyu Kang,
Katrien Stouffs,
Anna E. Jansen,
Lieve Verstraete,
Adeline Jacquinet,
Elena Parrini,
Renzo Guerrini,
Yuh Fujiwara,
Satoko Miyatake,
Bruria Ben‐Zeev,
Haim Bassan
and 21 other authors
SCN3A ‐related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation
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2019
Marisa I. Mendes,
Sarah von Spiczak,
Marjo S. van der Knaap,
Lydia M. C. Green,
Enrico Bertini,
Davide Tonduti,
Chiara Aiello,
Desiree Smith,
Ettore Salsano ,
Shanice Beerepoot ,
Jozef Hertecant,
Sarah Spiczak,
John H. Livingston,
Lisa Emrick,
Jamie Fraser
and 19 other authors
,
Shanice Beerepoot ,
Jozef Hertecant,
Sarah Spiczak,
John H. Livingston,
Lisa Emrick,
Jamie Fraser
and 19 other authors
RARS1 ‐related hypomyelinating leukodystrophy: Expanding the spectrum
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Stefan Wolking ,
Patrick May ,
Davide Mei ,
Rikke S. Møller,
Simona Balestrini,
Katherine L. Helbig ,
Cecilia Desmettre Altuzarra,
Nicolas Chatron,
Charu Kaiwar ,
Katharina Stöhr,
Peter Widdess-Walsh,
Bryce A. Mendelsohn,
Adam Numis,
Maria R. Cilio,
Wim Van Paesschen
and 36 other authors
,
Patrick May ,
Davide Mei ,
Rikke S. Møller,
Simona Balestrini,
Katherine L. Helbig ,
Cecilia Desmettre Altuzarra,
Nicolas Chatron,
Charu Kaiwar ,
Katharina Stöhr,
Peter Widdess-Walsh,
Bryce A. Mendelsohn,
Adam Numis,
Maria R. Cilio,
Wim Van Paesschen
and 36 other authors
Clinical spectrum of STX1B-related epileptic disorders
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