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Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

Publikation: Bidrag til tidsskriftTidsskriftartikelpeer review

Harvard

Møller, RS, Larsen, LHG, Johannesen, KM, Talvik, I, Talvik, T, Vaher, U, Miranda, MJ, Farooq, M, Nielsen, JEK, Svendsen, LL, Kjelgaard, DB, Linnet, KM, Hao, Q, Uldall, P, Frangu, M, Tommerup, N, Baig, SM, Abdullah, U, Born, AP, Gellert, P, Nikanorova, M, Olofsson, K, Jepsen, B, Marjanovic, D, Al-Zehhawi, LIK, Peñalva, SJ, Krag-Olsen, B, Brusgaard, K, Hjalgrim, H, Rubboli, G, Pal, DK & Dahl, HA 2016, 'Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies', Molecular Syndromology, bind 7, nr. 4, s. 210-219. https://doi.org/10.1156/000448369, https://doi.org/10.1159/000448369

APA

Møller, R. S., Larsen, L. H. G., Johannesen, K. M., Talvik, I., Talvik, T., Vaher, U., Miranda, M. J., Farooq, M., Nielsen, J. E. K., Svendsen, L. L., Kjelgaard, D. B., Linnet, K. M., Hao, Q., Uldall, P., Frangu, M., Tommerup, N., Baig, S. M., Abdullah, U., Born, A. P., ... Dahl, H. A. (2016). Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. Molecular Syndromology, 7(4), 210-219. https://doi.org/10.1156/000448369, https://doi.org/10.1159/000448369

CBE

Møller RS, Larsen LHG, Johannesen KM, Talvik I, Talvik T, Vaher U, Miranda MJ, Farooq M, Nielsen JEK, Svendsen LL, Kjelgaard DB, Linnet KM, Hao Q, Uldall P, Frangu M, Tommerup N, Baig SM, Abdullah U, Born AP, Gellert P, Nikanorova M, Olofsson K, Jepsen B, Marjanovic D, Al-Zehhawi LIK, Peñalva SJ, Krag-Olsen B, Brusgaard K, Hjalgrim H, Rubboli G, Pal DK, Dahl HA. 2016. Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. Molecular Syndromology. 7(4):210-219. https://doi.org/10.1156/000448369, https://doi.org/10.1159/000448369

MLA

Vancouver

Author

Møller, Rikke S ; Larsen, Line H G ; Johannesen, Katrine M ; Talvik, Inga ; Talvik, Tiina ; Vaher, Ulvi ; Miranda, Maria J ; Farooq, Muhammad ; Nielsen, Jens E K ; Svendsen, Lene Lavard ; Kjelgaard, Ditte B ; Linnet, Karen M ; Hao, Qin ; Uldall, Peter ; Frangu, Mimoza ; Tommerup, Niels ; Baig, Shahid M ; Abdullah, Uzma ; Born, Alfred P ; Gellert, Pia ; Nikanorova, Marina ; Olofsson, Kern ; Jepsen, Birgit ; Marjanovic, Dragan ; Al-Zehhawi, Lana I K ; Peñalva, Sofia J ; Krag-Olsen, Bente ; Brusgaard, Klaus ; Hjalgrim, Helle ; Rubboli, Guido ; Pal, Deb K ; Dahl, Hans A. / Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. I: Molecular Syndromology. 2016 ; Bind 7, Nr. 4. s. 210-219.

Bibtex

@article{b4e561252b00498da52368a052548ea9,
title = "Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies",
abstract = "In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since extensive phenotypic and genetic heterogeneity has been observed in many monogenic epilepsies. This study aimed to analyze the genetic basis of a wide spectrum of epilepsies with age of onset spanning from the neonatal period to adulthood. A gene panel targeting 46 epilepsy genes was used on a cohort of 216 patients consecutively referred for panel testing. The patients had a range of different epilepsies from benign neonatal seizures to epileptic encephalopathies (EEs). Potentially causative variants were evaluated by literature and database searches, submitted to bioinformatic prediction algorithms, and validated by Sanger sequencing. If possible, parents were included for segregation analysis. We identified a presumed disease-causing variant in 49 (23%) of the 216 patients. The variants were found in 19 different genes includingSCN1A, STXBP1, CDKL5, SCN2A, SCN8A, GABRA1, KCNA2,andSTX1B. Patients with neonatal-onset epilepsies had the highest rate of positive findings (57%). The overall yield for patients with EEs was 32%, compared to 17% among patients with generalized epilepsies and 16% in patients with focal or multifocal epilepsies. By the use of a gene panel consisting of 46 epilepsy genes, we were able to find a disease-causing genetic variation in 23% of the analyzed patients. The highest yield was found among patients with neonatal-onset epilepsies and EEs.",
keywords = "Journal Article",
author = "M{\o}ller, {Rikke S} and Larsen, {Line H G} and Johannesen, {Katrine M} and Inga Talvik and Tiina Talvik and Ulvi Vaher and Miranda, {Maria J} and Muhammad Farooq and Nielsen, {Jens E K} and Svendsen, {Lene Lavard} and Kjelgaard, {Ditte B} and Linnet, {Karen M} and Qin Hao and Peter Uldall and Mimoza Frangu and Niels Tommerup and Baig, {Shahid M} and Uzma Abdullah and Born, {Alfred P} and Pia Gellert and Marina Nikanorova and Kern Olofsson and Birgit Jepsen and Dragan Marjanovic and Al-Zehhawi, {Lana I K} and Pe{\~n}alva, {Sofia J} and Bente Krag-Olsen and Klaus Brusgaard and Helle Hjalgrim and Guido Rubboli and Pal, {Deb K} and Dahl, {Hans A}",
year = "2016",
month = sep,
doi = "10.1156/000448369",
language = "English",
volume = "7",
pages = "210--219",
journal = "Molecular Syndromology",
issn = "1661-8769",
publisher = "S.Karger AG",
number = "4",

}

RIS

TY - JOUR

T1 - Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

AU - Møller, Rikke S

AU - Larsen, Line H G

AU - Johannesen, Katrine M

AU - Talvik, Inga

AU - Talvik, Tiina

AU - Vaher, Ulvi

AU - Miranda, Maria J

AU - Farooq, Muhammad

AU - Nielsen, Jens E K

AU - Svendsen, Lene Lavard

AU - Kjelgaard, Ditte B

AU - Linnet, Karen M

AU - Hao, Qin

AU - Uldall, Peter

AU - Frangu, Mimoza

AU - Tommerup, Niels

AU - Baig, Shahid M

AU - Abdullah, Uzma

AU - Born, Alfred P

AU - Gellert, Pia

AU - Nikanorova, Marina

AU - Olofsson, Kern

AU - Jepsen, Birgit

AU - Marjanovic, Dragan

AU - Al-Zehhawi, Lana I K

AU - Peñalva, Sofia J

AU - Krag-Olsen, Bente

AU - Brusgaard, Klaus

AU - Hjalgrim, Helle

AU - Rubboli, Guido

AU - Pal, Deb K

AU - Dahl, Hans A

PY - 2016/9

Y1 - 2016/9

N2 - In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since extensive phenotypic and genetic heterogeneity has been observed in many monogenic epilepsies. This study aimed to analyze the genetic basis of a wide spectrum of epilepsies with age of onset spanning from the neonatal period to adulthood. A gene panel targeting 46 epilepsy genes was used on a cohort of 216 patients consecutively referred for panel testing. The patients had a range of different epilepsies from benign neonatal seizures to epileptic encephalopathies (EEs). Potentially causative variants were evaluated by literature and database searches, submitted to bioinformatic prediction algorithms, and validated by Sanger sequencing. If possible, parents were included for segregation analysis. We identified a presumed disease-causing variant in 49 (23%) of the 216 patients. The variants were found in 19 different genes includingSCN1A, STXBP1, CDKL5, SCN2A, SCN8A, GABRA1, KCNA2,andSTX1B. Patients with neonatal-onset epilepsies had the highest rate of positive findings (57%). The overall yield for patients with EEs was 32%, compared to 17% among patients with generalized epilepsies and 16% in patients with focal or multifocal epilepsies. By the use of a gene panel consisting of 46 epilepsy genes, we were able to find a disease-causing genetic variation in 23% of the analyzed patients. The highest yield was found among patients with neonatal-onset epilepsies and EEs.

AB - In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since extensive phenotypic and genetic heterogeneity has been observed in many monogenic epilepsies. This study aimed to analyze the genetic basis of a wide spectrum of epilepsies with age of onset spanning from the neonatal period to adulthood. A gene panel targeting 46 epilepsy genes was used on a cohort of 216 patients consecutively referred for panel testing. The patients had a range of different epilepsies from benign neonatal seizures to epileptic encephalopathies (EEs). Potentially causative variants were evaluated by literature and database searches, submitted to bioinformatic prediction algorithms, and validated by Sanger sequencing. If possible, parents were included for segregation analysis. We identified a presumed disease-causing variant in 49 (23%) of the 216 patients. The variants were found in 19 different genes includingSCN1A, STXBP1, CDKL5, SCN2A, SCN8A, GABRA1, KCNA2,andSTX1B. Patients with neonatal-onset epilepsies had the highest rate of positive findings (57%). The overall yield for patients with EEs was 32%, compared to 17% among patients with generalized epilepsies and 16% in patients with focal or multifocal epilepsies. By the use of a gene panel consisting of 46 epilepsy genes, we were able to find a disease-causing genetic variation in 23% of the analyzed patients. The highest yield was found among patients with neonatal-onset epilepsies and EEs.

KW - Journal Article

U2 - 10.1156/000448369

DO - 10.1156/000448369

M3 - Journal article

C2 - 27781031

VL - 7

SP - 210

EP - 219

JO - Molecular Syndromology

JF - Molecular Syndromology

SN - 1661-8769

IS - 4

ER -

ID: 48394606