Search Results - "Jungling, Jerome"

Refining Genotypes and Phenotypes in KCNA2 -Related Neurological Disorders by Döring, Jan H, Schröter, Julian, Jüngling, Jerome, Biskup, Saskia, Klotz, Kerstin A, Bast, Thomas, Dietel, Tobias, Korenke, G Christoph, Christoph, Sophie, Brennenstuhl, Heiko, Rubboli, Guido, Møller, Rikke S, Lesca, Gaetan, Chaix, Yves, Kölker, Stefan, Hoffmann, Georg F, Lemke, Johannes R, Syrbe, Steffen

“…Pathogenic variants in , encoding for the voltage-gated potassium channel K 1.2, have been identified as the cause for an evolving spectrum of neurological…”
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Prospective evaluation of NGS-based sequencing in epilepsy patients: results of seven NASGE-associated diagnostic laboratories by Witzel, Maximilian G W, Gebhard, Christian, Wenzel, Sören, Kleier, Saskia, Eichhorn, Birgit, Lorenz, Peter, von der Heyden, Laura, Kuhn, Marius, Luedeke, Manuel, Döcker, Miriam, Jüngling, Jerome, Schulte, Björn, Hörtnagel, Konstanze, Glaubitz, Ralf, Knippenberger, Sarah, Teubert, Anna, Abicht, Angela, Neuhann, Teresa M

“…Epilepsy is one of the most common and disabling neurological disorders. It is highly prevalent in children with neurodevelopmental delay and syndromic…”
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Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes by Maurer, Martin H, Kohler, Anja, Hudemann, Melanie, Jüngling, Jerome, Biskup, Saskia, Menzel, Martin

“…We report the finding of two copy number variants (CNVs) in a 12-year-old boy presenting both with autism spectrum disorder (ASD) and attention…”
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SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG by von Stülpnagel, Celina, Funke, Claudia, Haberl, Caroline, Hörtnagel, Konstanze, Jüngling, Jerome, Weber, Yvonne G, Staudt, Martin, Kluger, Gerhard

“…SYNGAP1, which encodes a RAS-GTPase-activating protein, is located on the short arm of chromosome 6. Heterozygous SYNGAP1 gene mutations have been associated…”
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Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 by Biskup, Saskia, Menzel, Martin, Jungling, Jerome, Kohler, Anja, Hudemann, Melanie, Maurer, Martin H

“…We report the finding of two copy number variants (CNVs) in a 12-year-old boy presenting both with autism spectrum disorder (ASD) and attention…”
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Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes by Maurer, Martin H, Kohler, Anja, Hudemann, Melanie, Jüngling, Jerome, Biskup, Saskia, Menzel, Martin

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