Her primary areas of study are Epilepsy, Pediatrics, Missense mutation, Encephalopathy and Genetics. Her studies in Epilepsy integrate themes in fields like Benign familial neonatal seizures and Ataxia. In her research on the topic of Pediatrics, Autism and Candidate gene is strongly related with West Syndrome.
Her Missense mutation research includes elements of Gastroenterology, Internal medicine and Exome. The various areas that Sarah Weckhuysen examines in her Genetics study include Generalized epilepsy, Bioinformatics and Dravet syndrome. Her work deals with themes such as Gene and Intellectual disability, which intersect with Bioinformatics.
Sarah Weckhuysen spends much of her time researching Epilepsy, Genetics, Pediatrics, Missense mutation and Gene. The study incorporates disciplines such as Internal medicine, Encephalopathy, Bioinformatics, Phenotype and Intellectual disability in addition to Epilepsy. Her research investigates the connection between Genetics and topics such as Dravet syndrome that intersect with issues in Exon.
Her Pediatrics study also includes fields such as
Sarah Weckhuysen focuses on Epilepsy, Phenotype, Missense mutation, Pediatrics and Genetics. Her work carried out in the field of Epilepsy brings together such families of science as Precision medicine, Intellectual disability and Cohort. Sarah Weckhuysen interconnects Dermatology, Hypertrichosis, Aplasia and Mutation in the investigation of issues within Intellectual disability.
Her Phenotype study combines topics from a wide range of disciplines, such as Neuroscience, Synaptogenesis and Neuronal Hyperexcitability. She has researched Missense mutation in several fields, including Exome sequencing, Dravet syndrome, Copy-number variation, Sodium channel blocker and Ataxia. Her Pediatrics study integrates concerns from other disciplines, such as Epileptic spasms, Encephalopathy, Ketogenic diet and Medical genetics.
Her scientific interests lie mostly in Epilepsy, Genetics, Gene, Phenotype and Loss function. Her Epilepsy research is multidisciplinary, incorporating elements of Neonatal onset, Pediatrics and Arthrogryposis. Her study in Gene is interdisciplinary in nature, drawing from both Precision medicine, Disease, Ion channel and Potassium channel.
In general Phenotype study, her work on Missense mutation often relates to the realm of SCN3A, thereby connecting several areas of interest. Her research integrates issues of Phenocopy, Germline, Zebrafish, Allele and Hypotonia in her study of Loss function. Her Phenocopy study frequently draws connections between related disciplines such as Human brain.
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KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.
Sarah Weckhuysen;Simone Mandelstam;Arvid Suls;Dominique Audenaert;Dominique Audenaert.
Annals of Neurology (2012)
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Johannes R Lemke;Dennis Lal;Eva M Reinthaler;Isabelle Steiner.
Nature Genetics (2013)
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Markus Wolff;Katrine M Johannesen;Ulrike B S Hedrich;Silvia Masnada.
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
Steffen Syrbe;Ulrike B.S. Hedrich;Erik Riesch;Tania Djémié.
Nature Genetics (2015)
GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome
Gemma L Carvill;Sarah Weckhuysen;Sarah Weckhuysen;Jacinta M McMahon;Corinna Hartmann;Corinna Hartmann.
The phenotypic spectrum of SCN8A encephalopathy
Jan Larsen;Gemma L Carvill;Elena Gardella;Gerhard Kluger.
STXBP1 encephalopathy A neurodevelopmental disorder including epilepsy
Hannah Stamberger;Marina Nikanorova;Marjolein H. Willemsen;Patrizia Accorsi.
Dominant‐negative effects of KCNQ2 mutations are associated with epileptic encephalopathy
Gökce Orhan;Merle Bock;Dorien Schepers;Elena I. Ilina.
Annals of Neurology (2014)
De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome
Arvid Suls;Johanna A. Jaehn;Angela Kecskés;Yvonne Weber.
American Journal of Human Genetics (2013)
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
Johannes R Lemke;Rik Hendrickx;Kirsten Geider;Bodo Laube.
Annals of Neurology (2014)
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