Holger Lerche

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

Tobias Brünger, Ilona Krey, Suyeon Kim, Chiara Klöckner et autres

de, us, dk, cl, gb, fr, lu, es, ru, nl, be, ca, it, au, at, fi (code pays fourni par la source)

Der interdisziplinäre Weg zur Diagnose – Das Modellvorhaben Genomsequenzierung

M. Zech, K. Lohmann, DGN-Kommission Neurogenetik, Maike F. Dohrn et autres

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The burden of TTN variants in the genomic era: Analysis of 18,462 individuals from the Solve-RD consortium and general recommendations

Maria Francesca Di Feo, Leslie Matalonga Borrel, Ana Töpf, Sergi Beltrán et autres

fi, es, gb, nl, de, it, fr, au (code pays fourni par la source)

Bi-allelic KICS2 mutations impair KICSTOR complex-mediated mTORC1 regulation, causing intellectual disability and epilepsy

Rebecca Buchert, Martin D. Burkhalter, Chrisovalantou Huridou, Linda Sofan et autres

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Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54 , MOCS2 , and OPHN1

Muhammad Anees, Hidayat Ullah, Hina Ambreen, Patrick May et autres

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Author response for "Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1"

Muhammad Anees, Hidayat Ullah, Hina Ambreen, Patrick May et autres

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Anne‐Sophie Denommé‐Pichon, Leslie Matalonga, Adam Jackson, Elisa Benetti et autres

fr, es, nl, gb, it, de, cz, at (code pays fourni par la source)

Obituary for Prof. Dr. Dr. h.c. Dipl. Ing. Frank Lehmann-Horn

Holger Lerche, Karin Jurkat‐Rott, Marc‐André Weber

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Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

Cristina Elena Niturad, Dorit Lev, Vera M. Kalscheuer, Agnieszka Charzewska et autres

de, il, lu, nl, it, fr (code pays fourni par la source)

Additional file 1: Table S1. of SRF modulates seizure occurrence, activity induced gene transcription and hippocampal circuit reorganization in the mouse pilocarpine epilepsy model

Pascal LĂśsing, Cristina Elena Niturad, Merle Harrer, Christopher Meyer zu Reckendorf et autres

The phenotypic spectrum of SCN8A encephalopathy

Jan Larsen, Gemma L. Carvill, Elena Gardella, Gerhard Kluger et autres

hr, us, dk, be, nl, gb, de, es, au, cl, Tunisie, it (code pays fourni par la source)

Focal epilepsy in Glucose transporter type 1 (Glut1) defects: case reports and a review of literature

Stefan Wolking, Felicitas Becker, Thomas Bast, Adelheid Wiemer‐Kruel et autres

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