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

共 50 条

[31] Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review
Yang, Lin
Wu, GuangSheng
Yin, HuiMei
Pan, MengLan
Zhu, YaFei
BMC PEDIATRICS, 2023, 23 (01)
[32] Prenatally diagnosed periventricular nodular heterotopia: Further delineation of the imaging phenotype and outcome
Deloison, B.
Sonigo, P.
Millischer-Bellaiche, A. E.
Quibel, T.
Cavallin, M.
Benoist, G.
Quelin, C.
Jouk, P. S.
Lev, D.
Alison, M.
Baumann, C.
Beldjord, C.
Razavi, F.
Bessieres, B.
Boddaert, N.
Ville, Y.
Salomon, L. J.
Bahi-Buisson, N.
EUROPEAN JOURNAL OF MEDICAL GENETICS, 2018, 61 (12) : 773 - 782
[33] Paternal Inheritance of Classic X-linked Bilateral Periventricular Nodular Heterotopia
Kasper, Burkhard S.
Kurzbuch, Katrin
Chang, Bernard S.
Pauli, Elisabeth
Hamer, Hajo M.
Winkler, Juergen
Hehr, Ute
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161A (06) : 1323 - 1328
[34] Stereo-EEG: Diagnostic and therapeutic tool for periventricular nodular heterotopia epilepsies
Mirandola, Laura
Mai, Roberto F.
Francione, Stefano
Pelliccia, Veronica
Gozzo, Francesca
Sartori, Ivana
Nobili, Lino
Cardinale, Francesco
Cossu, Massimo
Meletti, Stefano
Tassi, Laura
EPILEPSIA, 2017, 58 (11) : 1962 - 1971
[35] Unraveling the pathogenic mechanism of a novel filamin a frameshift variant in periventricular nodular heterotopia
Xue, Chunran
Wang, Yishu
Peng, Jing
Feng, Sisi
Guan, Yangtai
Hao, Yong
FRONTIERS IN PHARMACOLOGY, 2024, 15
[36] Periventricular Nodular Heterotopia and Distal Limb Deficiency: A Recurrent Association
de Wit, Marie Claire Y.
de Coo, Irenaeus F. M.
Schot, Rachel
Hoogeboom, A. Jeannette M.
Lequin, Maarten H.
Verkerk, Annemieke J. M. H.
Mancini, Grazia M. S.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (04) : 954 - 959
[37] Laser Ablation of Periventricular Nodular Heterotopia for Medically Refractory Epilepsy
McCormack, Ryan M.
Chandran, Arjun S.
Lhatoo, Samden D.
Pati, Sandipan
Li, Zhouxuan
Harris, Katherine
Lacuey, Nuria
Kalamangalam, Giridhar
Thompson, Stephen
Tandon, Nitin
ANNALS OF NEUROLOGY, 2024, 96 (06) : 1174 - 1184
[38] Hippocampal deep brain stimulation: a therapeutic option in patients with extensive bilateral periventricular nodular heterotopia: a case report
Cukiert, Arthur
Cukiert, Cristine Mella
Burattini, Jose Augusto
Mariani, Pedro Paulo
EPILEPTIC DISORDERS, 2020, 22 (05) : 664 - 668
[39] Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly
Stouffs, Katrien
Verloo, Patrick
Brock, Stefanie
Regal, Luc
Beysen, Diane
Ceulemans, Barten
Jansen, Anna C.
Meuwissen, Marije E. C.
FRONTIERS IN GENETICS, 2020, 11
[40] Periventricular nodular heterotopia is coupled with the neocortex during resting and task states
Gao, Yayue
Chen, Guanpeng
Teng, Pengfei
Zhang, Xin
Fang, Fang
Englot, Dario J.
Luan, Guoming
Wang, Xiongfei
Wang, Qian
CEREBRAL CORTEX, 2023, 33 (07) : 3467 - 3477

← 1 2 3 4 5 →