47 patients with FLNA associated periventricular nodular heterotopia.

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

doi:10.1186/s13023-015-0331-9

47 patients with FLNA associated periventricular nodular heterotopia.

Max Lange, Burkhard Kasper, Axel Bohring, Frank Rutsch, Gerhard Kluger (Co-author), 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 JanssensEugen Boltshauser, Juergen Winkler, Gerhard Schuierer, Ute Hehr

Research output: Contribution to journal › Original Article › peer-review

67 Citations (Web of Science)

Original language	English
Pages (from-to)	134
Journal	ORPHANET JOURNAL OF RARE DISEASES
Volume	10
DOIs	https://doi.org/10.1186/s13023-015-0331-9
Publication status	Published - 2015

Keywords

FILAMIN-A
PHENOTYPIC HETEROGENEITY
GENETIC MALFORMATIONS
CORTICAL DEVELOPMENT
MUTATIONS
MIGRATION
EPILEPSY
MALES

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10.1186/s13023-015-0331-9

Cite this

Lange, M., Kasper, B., Bohring, A., Rutsch, F., Kluger, G., Hoffjan, S., Spranger, S., Behnecke, A., Ferbert, A., Hahn, A., Oehl-Jaschkowitz, B., Graul-Neumann, L., Diepold, K., Schreyer, I., Bernhard, M. K., Mueller, F., Siebers-Renelt, U., Beleza-Meireles, A., Uyanik, G., ... Hehr, U. (2015). 47 patients with FLNA associated periventricular nodular heterotopia. ORPHANET JOURNAL OF RARE DISEASES, 10, 134. https://doi.org/10.1186/s13023-015-0331-9

@article{c002c8c579ed469aa36166a01db30abd,

title = "47 patients with FLNA associated periventricular nodular heterotopia.",

keywords = "FILAMIN-A, PHENOTYPIC HETEROGENEITY, GENETIC MALFORMATIONS, CORTICAL DEVELOPMENT, MUTATIONS, MIGRATION, EPILEPSY, MALES",

author = "Max Lange and Burkhard Kasper and Axel Bohring and Frank Rutsch and Gerhard Kluger and Sabine Hoffjan and Stephanie Spranger and Anne Behnecke and Andreas Ferbert and Andreas Hahn and Barbara Oehl-Jaschkowitz and Luitgard Graul-Neumann and Katharina Diepold and Isolde Schreyer and Bernhard, {Matthias K} and Franziska Mueller and Ulrike Siebers-Renelt and Ana Beleza-Meireles and Goekhan Uyanik and Sandra Janssens and Eugen Boltshauser and Juergen Winkler and Gerhard Schuierer and Ute Hehr",

note = "[Kluger, Gerhard] Paracelsus Med Univ, Salzburg, Austria;",

year = "2015",

doi = "10.1186/s13023-015-0331-9",

language = "English",

volume = "10",

pages = "134",

journal = "ORPHANET JOURNAL OF RARE DISEASES",

issn = "1750-1172",

publisher = "Springer Nature",

}

Lange, M, Kasper, B, Bohring, A, Rutsch, F, Kluger, G, Hoffjan, S, Spranger, S, Behnecke, A, Ferbert, A, Hahn, A, Oehl-Jaschkowitz, B, Graul-Neumann, L, Diepold, K, Schreyer, I, Bernhard, MK, Mueller, F, Siebers-Renelt, U, Beleza-Meireles, A, Uyanik, G, Janssens, S, Boltshauser, E, Winkler, J, Schuierer, G & Hehr, U 2015, '47 patients with FLNA associated periventricular nodular heterotopia.', ORPHANET JOURNAL OF RARE DISEASES, vol. 10, pp. 134. https://doi.org/10.1186/s13023-015-0331-9

TY - JOUR

T1 - 47 patients with FLNA associated periventricular nodular heterotopia.

AU - Lange, Max

AU - Kasper, Burkhard

AU - Bohring, Axel

AU - Rutsch, Frank

AU - Kluger, Gerhard

AU - Hoffjan, Sabine

AU - Spranger, Stephanie

AU - Behnecke, Anne

AU - Ferbert, Andreas

AU - Hahn, Andreas

AU - Oehl-Jaschkowitz, Barbara

AU - Graul-Neumann, Luitgard

AU - Diepold, Katharina

AU - Schreyer, Isolde

AU - Bernhard, Matthias K

AU - Mueller, Franziska

AU - Siebers-Renelt, Ulrike

AU - Beleza-Meireles, Ana

AU - Uyanik, Goekhan

AU - Janssens, Sandra

AU - Boltshauser, Eugen

AU - Winkler, Juergen

AU - Schuierer, Gerhard

AU - Hehr, Ute

N1 - [Kluger, Gerhard] Paracelsus Med Univ, Salzburg, Austria;

PY - 2015

Y1 - 2015

KW - FILAMIN-A

KW - PHENOTYPIC HETEROGENEITY

KW - GENETIC MALFORMATIONS

KW - CORTICAL DEVELOPMENT

KW - MUTATIONS

KW - MIGRATION

KW - EPILEPSY

KW - MALES

U2 - 10.1186/s13023-015-0331-9

DO - 10.1186/s13023-015-0331-9

M3 - Original Article

C2 - 26471271

SN - 1750-1172

VL - 10

SP - 134

JO - ORPHANET JOURNAL OF RARE DISEASES

JF - ORPHANET JOURNAL OF RARE DISEASES

ER -