Manuela Pendziwiat

Ingo Helbig 21 collaborations

None None 17 collaborations

Rikke S Møller 9 collaborations

Katherine L Helbig 9 collaborations

Simone Seiffert 7 collaborations

Yvonne Weber 7 collaborations

Hiltrud Muhle 7 collaborations

Allan Bayat 7 collaborations

Renzo Guerrini 6 collaborations

Niklas Schwarz 6 collaborations

Pasquale Striano 6 collaborations

Gaetan Lesca 5 collaborations

Karl Martin Klein 4 collaborations

Zaid Afawi 4 collaborations

Shiva Ganesan 4 collaborations

Annapurna Poduri 4 collaborations

Steffen Syrbe 4 collaborations

Yvonne G Weber 3 collaborations

Carla Marini 3 collaborations

Annika Rademacher 3 collaborations

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Sarah von Spiczak 3 collaborations

Gerhard Kluger 3 collaborations

Konrad Platzer 3 collaborations

Kirsty McWalter 3 collaborations

Amber Begtrup 3 collaborations

Heather C Mefford 3 collaborations

Franziska Hopfner 3 collaborations

Gregor Kuhlenbäumer 3 collaborations

Pia Zacher 3 collaborations

Guido Rubboli 3 collaborations

Johannes R Lemke 3 collaborations

Federico Zara 3 collaborations

Tobias Brünger 3 collaborations

Patrick May 3 collaborations

Dennis Lal 3 collaborations

Ulrike B S Hedrich 3 collaborations

Elena Gardella 3 collaborations

Boris Keren 3 collaborations

Caroline Nava 3 collaborations

Alexej Knaus 3 collaborations

Davide Mei 2 collaborations

Karine Lascelles 2 collaborations

Deb K Pal 2 collaborations

Peter D Galer 2 collaborations

Colin A Ellis 2 collaborations

Lacey Smith 2 collaborations

Roland Krause 2 collaborations

Walid Fazeli 2 collaborations

Jennifer N Dines 2 collaborations

Katie Golden-Grant 2 collaborations

Amy LaCroix 2 collaborations

Alison M Muir 2 collaborations

Dianne Laboy Cintrón 2 collaborations

Megan T Cho 2 collaborations

Angela Sun 2 collaborations

J Lawrence Merritt 2 collaborations

Jenny Thies 2 collaborations

Dmitriy Niyazov 2 collaborations

Barbara Burton 2 collaborations

Katherine Kim 2 collaborations

Leah Fleming 2 collaborations

Rachel Westman 2 collaborations

Peter Karachunski 2 collaborations

Joline Dalton 2 collaborations

Alice Basinger 2 collaborations

Can Ficicioglu 2 collaborations

Almuth Caliebe 2 collaborations

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Ganka Douglas 2 collaborations

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Kristin G Monaghan 2 collaborations

Ewa Obersztyn 2 collaborations

Artem Borovikov 2 collaborations

Artem Sharkov 2 collaborations

Laura Canafoglia 2 collaborations

Silvana Franceschetti 2 collaborations

Hilde M H Braakman 2 collaborations

Sonja Walsh 2 collaborations

Dorota Hoffman-Zacharska 2 collaborations

Ilya Kanivets 2 collaborations

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Holger Lerche 2 collaborations

Annalisa Vetro 2 collaborations

Christian M Korff 2 collaborations

Pascal Joset 2 collaborations

Katharina Steindl 2 collaborations

Thomas Smol 2 collaborations

Rami Abou Jamra 2 collaborations

Gabrielle Rudolf 2 collaborations

Deepali N Shinde 2 collaborations

Sarah Weckhuysen 2 collaborations

Julie Vogt 2 collaborations

Tahsin Stefan Barakat 2 collaborations

Stefanie H Mueller 2 collaborations

Zbigniew K Wszolek 2 collaborations

Owen A Ross 2 collaborations

Alex Rajput 2 collaborations

Günther Deuschl 2 collaborations

Berten Ceulemans 2 collaborations

Aleksandra Jezela-Stanek 2 collaborations

Ingrid E Scheffer 2 collaborations

Lynette G Sadleir 2 collaborations

Christel Depienne 2 collaborations

Laura Licchetta 2 collaborations

Francesca Bisulli 2 collaborations

Paolo Tinuper 2 collaborations

Michele Iacomino 2 collaborations

Christina Canavati 1 collaboration

Amal Abu Rayyan 1 collaboration

Lara Kamal 1 collaboration

Fouad Zahdeh 1 collaboration

Ikram Qaysia 1 collaboration

Moien Kanaan 1 collaboration

Shan Tang 1 collaboration

Laura Addis 1 collaboration

Anna Smith 1 collaboration

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Elaine Hughes 1 collaboration

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Christin Eltze 1 collaboration

Tim Kerr 1 collaboration

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Nahin Hussain 1 collaboration

Maria Kinali 1 collaboration

Irene Bagnasco 1 collaboration

Grace Vassallo 1 collaboration

William Whitehouse 1 collaboration

Sushma Goyal 1 collaboration

Michael Absoud 1 collaboration

Michael A Simpson 1 collaboration

Michael F Hammer 1 collaboration

Yanling Pan 1 collaboration

Medhane Cumbay 1 collaboration

Hadassah Goldberg-Stern 1 collaboration

Laurel Johnstone 1 collaboration

Theodore R Cummins 1 collaboration

Axel Rohr 1 collaboration

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Doris Boeckelmann 1 collaboration

Udo Koehler 1 collaboration

Julia Kracht 1 collaboration

Janbernd Kirschner 1 collaboration

Barbara Zieger 1 collaboration

David Lewis-Smith 1 collaboration

Sarah E McKeown 1 collaboration

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Jan H Döring 1 collaboration

Afshin Saffari 1 collaboration

Thomas Bast 1 collaboration

Knut Brockmann 1 collaboration

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Julian Schröter 1 collaboration

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Mohamed Salama 1 collaboration

Stefanie H Müller 1 collaboration

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Paula Goldenberg 1 collaboration

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Maria Giżewska 1 collaboration

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Katrine M Johannesen 1 collaboration

Yuanyuan Liu 1 collaboration

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Julian Schubert 1 collaboration

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Ahmed Eltokhi 1 collaboration

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Thomas Mayer 1 collaboration

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Mark P Fitzgerald 1 collaboration

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Gael Nicolas 1 collaboration

Guerrot Anne Marie 1 collaboration

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Anna Ruiz 1 collaboration

Adeline Ngoh 1 collaboration

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Kimberley Reid 1 collaboration

Robert Spaull 1 collaboration

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Martin Krenn 1 collaboration

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Irina Romanova 1 collaboration

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Margaret Au 1 collaboration

Katheryn Grand 1 collaboration

None John M 1 collaboration

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Roseline Caumes 1 collaboration

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Affiliations

Publications (29)

Inclusion of hemimegalencephaly into the phenotypic spectrum of NPRL3 pathogenic variants in familial focal epilepsy with variable foci.

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.

Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus.

Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy.

Hereditary neuralgic amyotrophy in childhood caused by duplication within the SEPT9 gene: A family study.

Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.

Efficacy, Tolerability, and Retention of Antiseizure Medications in

TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants.

Evidence for pathogenicity of variant ATM Val1729Leu in a family with ataxia telangiectasia.

Deep-Phenotyping the Less Severe Spectrum of

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

Molecular and Phenotypic Characterization of the

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.

Association of Essential Tremor With Novel Risk Loci: A Genome-Wide Association Study and Meta-analysis.

PIGN encephalopathy: Characterizing the epileptology.

KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties.

Lessons learned from 40 novel PIGA patients and a review of the literature.

Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome.

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy.

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With

Modulating effects of FGF12 variants on Na

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