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Pregled bibliografske jedinice broj: 728245

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Suls, Arvid; Jaehn, Johanna; Kecskés, Angela; Weber, Yvonne; Weckhuysen, Sarah; Craiu, Dana; Siekierska, Aleksandra; Djémié, Tania; Afrikanova, Tatiana; Gormley, Padhraig et al.
De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome // The American Journal of Human Genetics, 93 (2013), 5; 967-975 doi:10.1016/j.ajhg.2013.09.017 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 728245 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Autori
Suls, Arvid ; Jaehn, Johanna ; Kecskés, Angela ; Weber, Yvonne ; Weckhuysen, Sarah ; Craiu, Dana ; Siekierska, Aleksandra ; Djémié, Tania ; Afrikanova, Tatiana ; Gormley, Padhraig ; Von Spiczak, Sarah ; Kluger, Gerhard ; Iliescu, Catrinel ; Talvik, Tiina ; Talvik, Inga ; Meral, Cihan ; Caglayan, Hande ; Giraldez, Beatriz ; Serratosa, Jose ; Lemke, Johanes ; Hoffman- Zacharska, Dorota ; Szczepanik, Elizabeta ; Barisic, Nina ; Komarek, Vladimir ; Hjalgrim, Helle ; Møller, Rikke ; Linnankivi, Tarja ; Dimova, Petia ; Striano, Pasquale ; Zara, Federico ; Marini, Carla ; Guerrini, Renzo ; Depienne, Christel ; Baulac, Stephanie ; Kuhlenbäumer, Gregor ; Crawford, Alexander C. ; Lehesjoki, Anna-Elina ; De Witte, Petter ; Palotie, Aarno ; Lerche, Holger ; Esguerra, Camila ; De Jonghe, Peter ; Helbig, Ingo ; EuroEPINOMICS RES Consortium

Izvornik
The American Journal of Human Genetics (0002-9297) 93 (2013), 5; 967-975

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Dravet Syndrome

Sažetak
Dravet syndrome is a severe epilepsy syndrome characterized by infantile onset of therapy- resistant, fever-sensitive seizures followed by cognitive decline. Mutations in SCN1A explain about 75% of cases with Dravet syndrome ; 90% of these mutations arise de novo. We studied a cohort of nine Dravet-syndrome-affected individuals without an SCN1A mutation (these included some atypical cases with onset at up to 2 years of age) by using whole-exome sequencing in proband-parent trios. In two individuals, we identified a de novo loss-of- function mutation in CHD2 (encoding chromodomain helicase DNA binding protein 2). A third CHD2 mutation was identified in an epileptic proband of a second (stage 2) cohort. All three individuals with a CHD2 mutation had intellectual disability and fever-sensitive generalized seizures, as well as prominent myoclonic seizures starting in the second year of life or later. To explore the functional relevance of CHD2 haploinsufficiency in an in vivo model system, we knocked down chd2 in zebrafish by using targeted morpholino antisense oligomers. chd2-knockdown larvae exhibited altered locomotor activity, and the epileptic nature of this seizure-like behavior was confirmed by field-potential recordings that revealed epileptiform discharges similar to seizures in affected persons. Both altered locomotor activity and epileptiform discharges were absent in appropriate control larvae. Our study provides evidence that de novo loss-of- function mutations in CHD2 are a cause of epileptic encephalopathy with generalized seizures.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Profili:

Avatar Url Nina Barišić (autor)

Poveznice na cjeloviti tekst rada:

doi www.sciencedirect.com

Citiraj ovu publikaciju:

Suls, Arvid; Jaehn, Johanna; Kecskés, Angela; Weber, Yvonne; Weckhuysen, Sarah; Craiu, Dana; Siekierska, Aleksandra; Djémié, Tania; Afrikanova, Tatiana; Gormley, Padhraig et al.
De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome // The American Journal of Human Genetics, 93 (2013), 5; 967-975 doi:10.1016/j.ajhg.2013.09.017 (međunarodna recenzija, članak, znanstveni)
Suls, A., Jaehn, J., Kecskés, A., Weber, Y., Weckhuysen, S., Craiu, D., Siekierska, A., Djémié, T., Afrikanova, T. & Gormley, P. (2013) De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome. The American Journal of Human Genetics, 93 (5), 967-975 doi:10.1016/j.ajhg.2013.09.017.
@article{article, author = {Suls, Arvid and Jaehn, Johanna and Kecsk\'{e}s, Angela and Weber, Yvonne and Weckhuysen, Sarah and Craiu, Dana and Siekierska, Aleksandra and Dj\'{e}mi\'{e}, Tania and Afrikanova, Tatiana and Gormley, Padhraig and Von Spiczak, Sarah and Kluger, Gerhard and Iliescu, Catrinel and Talvik, Tiina and Talvik, Inga and Meral, Cihan and Caglayan, Hande and Giraldez, Beatriz and Serratosa, Jose and Lemke, Johanes and Hoffman- Zacharska, Dorota and Szczepanik, Elizabeta and Barisic, Nina and Komarek, Vladimir and Hjalgrim, Helle and M\oller, Rikke and Linnankivi, Tarja and Dimova, Petia and Striano, Pasquale and Zara, Federico and Marini, Carla and Guerrini, Renzo and Depienne, Christel and Baulac, Stephanie and Kuhlenb\"{a}umer, Gregor and Crawford, Alexander C. and Lehesjoki, Anna-Elina and De Witte, Petter and Palotie, Aarno and Lerche, Holger and Esguerra, Camila and De Jonghe, Peter and Helbig, Ingo}, year = {2013}, pages = {967-975}, DOI = {10.1016/j.ajhg.2013.09.017}, keywords = {Dravet Syndrome}, journal = {The American Journal of Human Genetics}, doi = {10.1016/j.ajhg.2013.09.017}, volume = {93}, number = {5}, issn = {0002-9297}, title = {De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome}, keyword = {Dravet Syndrome} }
@article{article, author = {Suls, Arvid and Jaehn, Johanna and Kecsk\'{e}s, Angela and Weber, Yvonne and Weckhuysen, Sarah and Craiu, Dana and Siekierska, Aleksandra and Dj\'{e}mi\'{e}, Tania and Afrikanova, Tatiana and Gormley, Padhraig and Von Spiczak, Sarah and Kluger, Gerhard and Iliescu, Catrinel and Talvik, Tiina and Talvik, Inga and Meral, Cihan and Caglayan, Hande and Giraldez, Beatriz and Serratosa, Jose and Lemke, Johanes and Hoffman- Zacharska, Dorota and Szczepanik, Elizabeta and Barisic, Nina and Komarek, Vladimir and Hjalgrim, Helle and M\oller, Rikke and Linnankivi, Tarja and Dimova, Petia and Striano, Pasquale and Zara, Federico and Marini, Carla and Guerrini, Renzo and Depienne, Christel and Baulac, Stephanie and Kuhlenb\"{a}umer, Gregor and Crawford, Alexander C. and Lehesjoki, Anna-Elina and De Witte, Petter and Palotie, Aarno and Lerche, Holger and Esguerra, Camila and De Jonghe, Peter and Helbig, Ingo}, year = {2013}, pages = {967-975}, DOI = {10.1016/j.ajhg.2013.09.017}, keywords = {Dravet Syndrome}, journal = {The American Journal of Human Genetics}, doi = {10.1016/j.ajhg.2013.09.017}, volume = {93}, number = {5}, issn = {0002-9297}, title = {De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome}, keyword = {Dravet Syndrome} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

Uključenost u ostale bibliografske baze podataka::


  • MEDLINE
  • Elsevier

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