Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

Nuria C. Bramswig; Hermann-Josef Luedecke; Fadi F. Hamdan; Janine Altmueller; Filippo Beleggia; Nursel H. Elcioglu; Catharine Freyer; Erica H. Gerkes; Yasemin Kendir Demirkol; Kelly G. Knupp; Alma Kuechler; Yun Li; Daniel H. Lowenstein; Jacques L. Michaud; Kristen Park; Alexander P. A. Stegmann; Hermine E. Veenstra-Knol; Thomas Wieland; Bernd Wollnik; Hartmut Engels; Tim M. Strom; Tjitske Kleefstra; Dagmar Wieczorek

doi:10.1007/s00439-017-1795-6

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

Nuria C. Bramswig^*, Hermann-Josef Luedecke, Fadi F. Hamdan, Janine Altmueller, Filippo Beleggia, Nursel H. Elcioglu, Catharine Freyer, Erica H. Gerkes, Yasemin Kendir Demirkol, Kelly G. Knupp, Alma Kuechler, Yun Li, Daniel H. Lowenstein, Jacques L. Michaud, Kristen Park, Alexander P. A. Stegmann, Hermine E. Veenstra-Knol, Thomas Wieland, Bernd Wollnik, Hartmut EngelsTim M. Strom, Tjitske Kleefstra, Dagmar Wieczorek

^*Corresponding author for this work

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

36 Citations (Web of Science)

Original language	English
Pages (from-to)	821-834
Number of pages	14
Journal	Human Genetics
Volume	136
Issue number	7
DOIs	https://doi.org/10.1007/s00439-017-1795-6
Publication status	Published - Jul 2017

Keywords

COPY-NUMBER VARIATION
DE-NOVO MUTATIONS
CORPUS-CALLOSUM
CANDIDATE GENES
CRITICAL REGION
DELETION
1Q44
SEIZURES
ENCEPHALOPATHIES
ABNORMALITIES

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10.1007/s00439-017-1795-6

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Bramswig, N. C., Luedecke, H-J., Hamdan, F. F., Altmueller, J., Beleggia, F., Elcioglu, N. H., Freyer, C., Gerkes, E. H., Demirkol, Y. K., Knupp, K. G., Kuechler, A., Li, Y., Lowenstein, D. H., Michaud, J. L., Park, K., Stegmann, A. P. A., Veenstra-Knol, H. E., Wieland, T., Wollnik, B., ... Wieczorek, D. (2017). Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Human Genetics, 136(7), 821-834. https://doi.org/10.1007/s00439-017-1795-6

Bramswig, Nuria C. ; Luedecke, Hermann-Josef ; Hamdan, Fadi F. ; Altmueller, Janine ; Beleggia, Filippo ; Elcioglu, Nursel H. ; Freyer, Catharine ; Gerkes, Erica H. ; Demirkol, Yasemin Kendir ; Knupp, Kelly G. ; Kuechler, Alma ; Li, Yun ; Lowenstein, Daniel H. ; Michaud, Jacques L. ; Park, Kristen ; Stegmann, Alexander P. A. ; Veenstra-Knol, Hermine E. ; Wieland, Thomas ; Wollnik, Bernd ; Engels, Hartmut ; Strom, Tim M. ; Kleefstra, Tjitske ; Wieczorek, Dagmar. / Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. In: Human Genetics. 2017 ; Vol. 136, No. 7. pp. 821-834.

@article{76d3097a152b41429372b830f3dfc814,

title = "Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability",

keywords = "COPY-NUMBER VARIATION, DE-NOVO MUTATIONS, CORPUS-CALLOSUM, CANDIDATE GENES, CRITICAL REGION, DELETION, 1Q44, SEIZURES, ENCEPHALOPATHIES, ABNORMALITIES",

author = "Bramswig, {Nuria C.} and Hermann-Josef Luedecke and Hamdan, {Fadi F.} and Janine Altmueller and Filippo Beleggia and Elcioglu, {Nursel H.} and Catharine Freyer and Gerkes, {Erica H.} and Demirkol, {Yasemin Kendir} and Knupp, {Kelly G.} and Alma Kuechler and Yun Li and Lowenstein, {Daniel H.} and Michaud, {Jacques L.} and Kristen Park and Stegmann, {Alexander P. A.} and Veenstra-Knol, {Hermine E.} and Thomas Wieland and Bernd Wollnik and Hartmut Engels and Strom, {Tim M.} and Tjitske Kleefstra and Dagmar Wieczorek",

year = "2017",

month = jul,

doi = "10.1007/s00439-017-1795-6",

language = "English",

volume = "136",

pages = "821--834",

journal = "Human Genetics",

issn = "0340-6717",

publisher = "Springer",

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Bramswig, NC, Luedecke, H-J, Hamdan, FF, Altmueller, J, Beleggia, F, Elcioglu, NH, Freyer, C, Gerkes, EH, Demirkol, YK, Knupp, KG, Kuechler, A, Li, Y, Lowenstein, DH, Michaud, JL, Park, K, Stegmann, APA, Veenstra-Knol, HE, Wieland, T, Wollnik, B, Engels, H, Strom, TM, Kleefstra, T & Wieczorek, D 2017, 'Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability', Human Genetics, vol. 136, no. 7, pp. 821-834. https://doi.org/10.1007/s00439-017-1795-6

Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. / Bramswig, Nuria C.; Luedecke, Hermann-Josef; Hamdan, Fadi F.; Altmueller, Janine; Beleggia, Filippo; Elcioglu, Nursel H.; Freyer, Catharine; Gerkes, Erica H.; Demirkol, Yasemin Kendir; Knupp, Kelly G.; Kuechler, Alma; Li, Yun; Lowenstein, Daniel H.; Michaud, Jacques L.; Park, Kristen; Stegmann, Alexander P. A.; Veenstra-Knol, Hermine E.; Wieland, Thomas; Wollnik, Bernd; Engels, Hartmut; Strom, Tim M.; Kleefstra, Tjitske; Wieczorek, Dagmar.

In: Human Genetics, Vol. 136, No. 7, 07.2017, p. 821-834.

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

TY - JOUR

T1 - Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability

AU - Bramswig, Nuria C.

AU - Luedecke, Hermann-Josef

AU - Hamdan, Fadi F.

AU - Altmueller, Janine

AU - Beleggia, Filippo

AU - Elcioglu, Nursel H.

AU - Freyer, Catharine

AU - Gerkes, Erica H.

AU - Demirkol, Yasemin Kendir

AU - Knupp, Kelly G.

AU - Kuechler, Alma

AU - Li, Yun

AU - Lowenstein, Daniel H.

AU - Michaud, Jacques L.

AU - Park, Kristen

AU - Stegmann, Alexander P. A.

AU - Veenstra-Knol, Hermine E.

AU - Wieland, Thomas

AU - Wollnik, Bernd

AU - Engels, Hartmut

AU - Strom, Tim M.

AU - Kleefstra, Tjitske

AU - Wieczorek, Dagmar

PY - 2017/7

Y1 - 2017/7

KW - COPY-NUMBER VARIATION

KW - DE-NOVO MUTATIONS

KW - CORPUS-CALLOSUM

KW - CANDIDATE GENES

KW - CRITICAL REGION

KW - DELETION

KW - 1Q44

KW - SEIZURES

KW - ENCEPHALOPATHIES

KW - ABNORMALITIES

U2 - 10.1007/s00439-017-1795-6

DO - 10.1007/s00439-017-1795-6

M3 - Article

VL - 136

SP - 821

EP - 834

JO - Human Genetics

JF - Human Genetics

SN - 0340-6717

IS - 7

ER -