47 patients with FLNA associated periventricular nodular heterotopia

被引：0

作者：

Max Lange

Burkhard Kasper

Axel Bohring

Frank Rutsch

Gerhard Kluger

Sabine Hoffjan

Stephanie Spranger

Anne Behnecke

Andreas Ferbert

Andreas Hahn

Barbara Oehl-Jaschkowitz

Luitgard Graul-Neumann

Katharina Diepold

Isolde Schreyer

Matthias K. Bernhard

Franziska Mueller

Ulrike Siebers-Renelt

Ana Beleza-Meireles

Goekhan Uyanik

Sandra Janssens

Eugen Boltshauser

Juergen Winkler

Gerhard Schuierer

Ute Hehr

机构：

[1] University of Regensburg,Department of Neurosurgery

[2] Medical Center,Department of Neurology

[3] Epilepsy Center,Department of General Pediatrics

[4] University of Erlangen,Department of Pediatrics

[5] Medical Center,Division of Neuropediatrics

[6] Institute of Human Genetics,Division of Molecular Neurology

[7] University of Muenster,Department of Neuroradiology

[8] Muenster University Children’s Hospital,Department of Human Genetics

[9] Neuropädiatrie,undefined

[10] Schön Klinik Vogtareuth,undefined

[11] Vogtareuth,undefined

[12] Germany und Paracelsus Medical University,undefined

[13] Salzburg/Austria,undefined

[14] Department of Human Genetics,undefined

[15] Ruhr-University Bochum,undefined

[16] Praxis fuer Humangenetik,undefined

[17] Klinikum Bremen-Mitte,undefined

[18] Institute of Human Genetics,undefined

[19] Heidelberg University,undefined

[20] Klinik für Neurologie,undefined

[21] Klinikum Kassel and Medical School,undefined

[22] Department of Neuropediatrics,undefined

[23] University of Giessen,undefined

[24] Praxis fuer Humangenetik,undefined

[25] Ambulantes Gesundheitszentrum der Charité (Humangenetik),undefined

[26] Universitätsmedizin Berlin,undefined

[27] Department of Neuropediatrics,undefined

[28] Klinikum Kassel,undefined

[29] Institut für Humangenetik,undefined

[30] Uni Jena,undefined

[31] University of Leipzig Medical Center,undefined

[32] Center for Human Genetics,undefined

[33] Genetics Clinic,undefined

[34] Guy’s Hospital,undefined

[35] Guy’s and St Thomas’ NHS Foundation Trust,undefined

[36] Zentrum für Medizinische Genetik,undefined

[37] Hanusch-Krankenhaus der Wiener Gebietskrankenkasse,undefined

[38] Centre for Medical Genetics,undefined

[39] Ghent University Hospital,undefined

[40] University Children’s Hospital Zürich,undefined

[41] University Hospital,undefined

[42] Friedrich-Alexander-University Erlangen-Nuernberg,undefined

[43] University of Regensburg,undefined

[44] Medical Center,undefined

[45] University of Regensburg,undefined

[46] Medical Center,undefined

来源：

Orphanet Journal of Rare Diseases | / 10卷

关键词：

Periventricular nodular heterotopia; Filamin A; Imaging; Score; Seizures; Phenotype;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

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