Publications by authors named "Birgit Neophytou"

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Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy.
Dheeraj R Bobbili, Dennis Lal, Patrick May, Eva M Reinthaler, Kamel Jabbari, Birgit Neophytou

Eur J Hum Genet· February 2018

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Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.
Dennis Lal, Eva M Reinthaler, Borislav Dejanovic, Patrick May, Holger Thiele, Birgit Neophytou

PLoS One· August 2016

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Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.
Eva M Reinthaler, Borislav Dejanovic, Dennis Lal, Marcus Semtner, Yvonne Merkler, Birgit Neophytou

Ann Neurol· June 2015

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16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Eva M Reinthaler, Dennis Lal, Sebastien Lebon, Michael S Hildebrand, Hans-Henrik M Dahl, Birgit Neophytou

Hum Mol Genet· November 2014

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Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.
Eva M Reinthaler, Dennis Lal, Wiktor Jurkowski, Martha Feucht, Hannelore Steinböck, Birgit Neophytou

Epilepsia· August 2014

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DEPDC5 mutations in genetic focal epilepsies of childhood.
Dennis Lal, Eva M Reinthaler, Julian Schubert, Hiltrud Muhle, Erik Riesch, Birgit Neophytou

Ann Neurol· May 2014

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CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.
Francisco J Arjona, Jeroen H F de Baaij, Karl P Schlingmann, Anke L L Lameris, Erwin van Wijk, Birgit Neophytou

PLoS Genet· April 2014

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Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.
Saadet Mercimek-Mahmutoglu, Adolf Muehl, Gajja S Salomons, Birgit Neophytou, Dorothea Moeslinger

Mol Genet Metab· April 2009

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Central nervous system-related permanent consequences in patients with Langerhans cell histiocytosis.
Edda Mittheisz, Rainer Seidl, Daniela Prayer, Marion Waldenmair, Birgit Neophytou

Pediatr Blood Cancer· January 2007

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