KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP-Reference-Cited by-同舟云学术

KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP

Published:2019-08-29 Issue:10 Volume:142 Page:2996-3008
ISSN:0006-8950
Container-title:Brain
language:en
Short-container-title:

Author:

Kuchenbuch Mathieu¹²³^ORCID,Barcia Giulia²³⁴,Chemaly Nicole²³,Carme Emilie⁵,Roubertie Agathe⁵,Gibaud Marc⁶,Van Bogaert Patrick⁶,de Saint Martin Anne⁷,Hirsch Edouard⁷,Dubois Fanny⁸,Sarret Catherine⁹,Nguyen The Tich Sylvie¹⁰,Laroche Cecile¹¹,des Portes Vincent¹²¹³,Billette de Villemeur Thierry¹⁴,Barthez Marie-Anne¹⁵,Auvin Stéphane¹⁶¹⁷^ORCID,Bahi-Buisson Nadia²,Desguerre Isabelle²,Kaminska Anna²¹⁸,Benquet Pascal¹,Nabbout Rima²³^ORCID

Affiliation:

1. University Rennes, CHU Rennes (Department of Clinical neurophysiology), Inserm, LTSI (Laboratoire de Traitement du Signal et de l’Image), UMR-1099, F-35000 Rennes, France

2. Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades Hospital, Paris Descartes University, Paris, France

3. Institut Imagine, INSERM UMR 1163, Translational research for neurological disorder, France

4. Department of Genetics, Necker Enfants Malades Hospital, Imagine Institute, France

5. Department of Pediatric Neurology, University of Montpellier, France

6. Department of Pediatric Neurology, Angers University Hospital, France

7. Department of Pediatric Neurology, Strasbourg University Hospital, France

8. Department of Pediatric Neurology, CHU Grenoble Alpes, F-38000 Grenoble, France

9. Department of Medical Genetics, CHU Clermont-Ferrand, France

10. Department of Pediatric Neurology, Lille University Hospital, France

11. Department of Pediatric Neurology, Limoges University Hospital, France

12. Department of Pediatric Neurology, CNRS UMR 5304, F- 69675 Bron, France

13. Lyon-1 University, F-69008 Lyon, France

14. Department of Pediatric Neurology, Trousseau Hospital, Assistance Publique-Hôpitaux de Paris, France

15. Department of Pediatric Neurology, Tours University Hospital, France

16. Université Paris Diderot, Sorbonne Paris Cité, INSERM UMR1141, Paris, France

17. AP-HP, Hôpital Robert Debré, Service de Neurologie Pédiatrique, Paris, France

18. AP-HP, Necker-Enfants Malades Hospital, Department of Clinical Neurophysiology, Paris, France

Abstract

Data on KCNT1 epilepsy of infancy with migrating focal seizures are heterogeneous and incomplete. Kuchenbuch et al. refine the syndrome phenotype, showing a three-step temporal sequence, poor prognosis with acquired microcephaly, high prevalence of extra-neurological manifestations and early mortality, particularly due to SUDEP. Refining the electro-clinical spectrum should facilitate early diagnosis.

Funder

French Pediatric Society

French Institute of Health and Medical Research

Clinical Neurosciences in Rennes

INCR

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

Link

http://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awz240/29228257/awz240.pdf

Reference56 articles.