John Rosendahl Østergaard

Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

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Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations. / Granild Bie Mertz, Line; Christensen, Rikke; Vogel, Ida; Hertz, Jens Michael; Østergaard, John R.

In: Research in Developmental Disabilities, Vol. 56, 09.2016, p. 177-82.

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

Harvard

Granild Bie Mertz, L, Christensen, R, Vogel, I, Hertz, JM & Østergaard, JR 2016, 'Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations', Research in Developmental Disabilities, vol. 56, pp. 177-82. https://doi.org/10.1016/j.ridd.2016.06.002

APA

Granild Bie Mertz, L., Christensen, R., Vogel, I., Hertz, J. M., & Østergaard, J. R. (2016). Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations. Research in Developmental Disabilities, 56, 177-82. https://doi.org/10.1016/j.ridd.2016.06.002

CBE

Granild Bie Mertz L, Christensen R, Vogel I, Hertz JM, Østergaard JR. 2016. Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations. Research in Developmental Disabilities. 56:177-82. https://doi.org/10.1016/j.ridd.2016.06.002

MLA

Granild Bie Mertz, Line et al. "Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations". Research in Developmental Disabilities. 2016, 56. 177-82. https://doi.org/10.1016/j.ridd.2016.06.002

Vancouver

Granild Bie Mertz L, Christensen R, Vogel I, Hertz JM, Østergaard JR. Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations. Research in Developmental Disabilities. 2016 Sep;56:177-82. https://doi.org/10.1016/j.ridd.2016.06.002

Author

Granild Bie Mertz, Line ; Christensen, Rikke ; Vogel, Ida ; Hertz, Jens Michael ; Østergaard, John R. / Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations. In: Research in Developmental Disabilities. 2016 ; Vol. 56. pp. 177-82.

Bibtex

@article{c7b1b86a30a446e4acac3fe6fa9a7d7b,
title = "Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations",
abstract = "BACKGROUND: Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, epilepsy, and low threshold for laughter.AIMS: We investigated the occurrence and severity of epilepsy and laughter-induced loss of postural muscle tone determined by the different genetic subtypes.METHODS: This study included 39 children with AS. Deletion breakpoints were determined by high resolution CGH microarray (1×1M Agilent). Clinical data were based on a parent interview and medical record review.RESULTS: All patients with AS based on a deletion had epilepsy. Epilepsy was present in 3/4 children with UBE3A mutation, and 4/5 with pUPD. Onset of epilepsy occurred earlier in deletion cases compared to pUPD or UBE3A mutations cases. Laughter-induced postural muscle tone loss occurred only among deletion cases. We found no differences in severity of epilepsy between children with a larger Class I or a smaller Class II deletions, or between the total group with a deletion compared to children with pUPD or a UBE3A mutation. The drugs most frequently prescribed were benzodiazepines in monotherapy, or a combination of benzodiazepines and valproic acid.CONCLUSION: Epilepsy is very common in patients with AS, especially in patients with a deletion. Postural muscle tone loss and collapsing during outbursts of laughter were seen in patients with a deletion only.",
keywords = "Journal Article",
author = "{Granild Bie Mertz}, Line and Rikke Christensen and Ida Vogel and Hertz, {Jens Michael} and {\O}stergaard, {John R}",
note = "Copyright {\textcopyright} 2016 Elsevier Ltd. All rights reserved.",
year = "2016",
month = sep,
doi = "10.1016/j.ridd.2016.06.002",
language = "English",
volume = "56",
pages = "177--82",
journal = "Research in Developmental Disabilities",
issn = "0891-4222",
publisher = "Pergamon Press",

}

RIS

TY - JOUR

T1 - Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations

AU - Granild Bie Mertz, Line

AU - Christensen, Rikke

AU - Vogel, Ida

AU - Hertz, Jens Michael

AU - Østergaard, John R

N1 - Copyright © 2016 Elsevier Ltd. All rights reserved.

PY - 2016/9

Y1 - 2016/9

N2 - BACKGROUND: Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, epilepsy, and low threshold for laughter.AIMS: We investigated the occurrence and severity of epilepsy and laughter-induced loss of postural muscle tone determined by the different genetic subtypes.METHODS: This study included 39 children with AS. Deletion breakpoints were determined by high resolution CGH microarray (1×1M Agilent). Clinical data were based on a parent interview and medical record review.RESULTS: All patients with AS based on a deletion had epilepsy. Epilepsy was present in 3/4 children with UBE3A mutation, and 4/5 with pUPD. Onset of epilepsy occurred earlier in deletion cases compared to pUPD or UBE3A mutations cases. Laughter-induced postural muscle tone loss occurred only among deletion cases. We found no differences in severity of epilepsy between children with a larger Class I or a smaller Class II deletions, or between the total group with a deletion compared to children with pUPD or a UBE3A mutation. The drugs most frequently prescribed were benzodiazepines in monotherapy, or a combination of benzodiazepines and valproic acid.CONCLUSION: Epilepsy is very common in patients with AS, especially in patients with a deletion. Postural muscle tone loss and collapsing during outbursts of laughter were seen in patients with a deletion only.

AB - BACKGROUND: Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, epilepsy, and low threshold for laughter.AIMS: We investigated the occurrence and severity of epilepsy and laughter-induced loss of postural muscle tone determined by the different genetic subtypes.METHODS: This study included 39 children with AS. Deletion breakpoints were determined by high resolution CGH microarray (1×1M Agilent). Clinical data were based on a parent interview and medical record review.RESULTS: All patients with AS based on a deletion had epilepsy. Epilepsy was present in 3/4 children with UBE3A mutation, and 4/5 with pUPD. Onset of epilepsy occurred earlier in deletion cases compared to pUPD or UBE3A mutations cases. Laughter-induced postural muscle tone loss occurred only among deletion cases. We found no differences in severity of epilepsy between children with a larger Class I or a smaller Class II deletions, or between the total group with a deletion compared to children with pUPD or a UBE3A mutation. The drugs most frequently prescribed were benzodiazepines in monotherapy, or a combination of benzodiazepines and valproic acid.CONCLUSION: Epilepsy is very common in patients with AS, especially in patients with a deletion. Postural muscle tone loss and collapsing during outbursts of laughter were seen in patients with a deletion only.

KW - Journal Article

U2 - 10.1016/j.ridd.2016.06.002

DO - 10.1016/j.ridd.2016.06.002

M3 - Journal article

C2 - 27323320

VL - 56

SP - 177

EP - 182

JO - Research in Developmental Disabilities

JF - Research in Developmental Disabilities

SN - 0891-4222

ER -