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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

Overview of attention for article published in Epilepsia, September 2020
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (84th percentile)
  • Average Attention Score compared to outputs of the same age and source

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Title
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome
Published in
Epilepsia, September 2020
DOI 10.1111/epi.16679
Pubmed ID
Authors

Claire Bar, Mathieu Kuchenbuch, Giulia Barcia, Amy Schneider, Mélanie Jennesson, Gwenaël Le Guyader, Gaetan Lesca, Cyril Mignot, Martino Montomoli, Elena Parrini, Hervé Isnard, Anne Rolland, Boris Keren, Alexandra Afenjar, Nathalie Dorison, Lynette G. Sadleir, Delphine Breuillard, Raphael Levy, Marlène Rio, Sophie Dupont, Susanna Negrin, Alberto Danieli, Emmanuel Scalais, Anne De Saint Martin, Salima El Chehadeh, Jamel Chelly, Alice Poisson, Anne‐Sophie Lebre, Anca Nica, Sylvie Odent, Tayeb Sekhara, Vesna Brankovic, Alice Goldenberg, Pascal Vrielynck, Damien Lederer, Hélène Maurey, Gaetano Terrone, Claude Besmond, Laurence Hubert, Patrick Berquin, Thierry Billette de Villemeur, Bertrand Isidor, Jeremy L. Freeman, Heather C. Mefford, Candace T. Myers, Katherine B. Howell, Andrés Rodríguez‐Sacristán Cascajo, Pierre Meyer, David Genevieve, Agnès Guët, Diane Doummar, Julien Durigneux, Marieke F. van Dooren, Marie Claire Y. de Wit, Marion Gerard, Isabelle Marey, Arnold Munnich, Renzo Guerrini, Ingrid E. Scheffer, Edor Kabashi, Rima Nabbout

Abstract

We aimed to delineate the phenotypic spectrum and long-term outcome of individuals with KCNB1 encephalopathy. We collected genetic, clinical, electroencephalographic, and imaging data of individuals with KCNB1 pathogenic variants recruited through an international collaboration, with the support of the family association "KCNB1 France." Patients were classified as having developmental and epileptic encephalopathy (DEE) or developmental encephalopathy (DE). In addition, we reviewed published cases and provided the long-term outcome in patients older than 12 years from our series and from literature. Our series included 36 patients (21 males, median age = 10 years, range = 1.6 months-34 years). Twenty patients (56%) had DEE with infantile onset seizures (seizure onset = 10 months, range = 10 days-3.5 years), whereas 16 (33%) had DE with late onset epilepsy in 10 (seizure onset = 5 years, range = 18 months-25 years) and without epilepsy in six. Cognitive impairment was more severe in individuals with DEE compared to those with DE. Analysis of 73 individuals with KCNB1 pathogenic variants (36 from our series and 37 published individuals in nine reports) showed developmental delay in all with severe to profound intellectual disability in 67% (n = 41/61) and autistic features in 56% (n = 32/57). Long-term outcome in 22 individuals older than 12 years (14 in our series and eight published individuals) showed poor cognitive, psychiatric, and behavioral outcome. Epilepsy course was variable. Missense variants were associated with more frequent and more severe epilepsy compared to truncating variants. Our study describes the phenotypic spectrum of KCNB1 encephalopathy, which varies from severe DEE to DE with or without epilepsy. Although cognitive impairment is worse in patients with DEE, long-term outcome is poor for most and missense variants are associated with more severe epilepsy outcome. Further understanding of disease mechanisms should facilitate the development of targeted therapies, much needed to improve the neurodevelopmental prognosis.

X Demographics

X Demographics

The data shown below were collected from the profiles of 8 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 75 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 75 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 9 12%
Student > Postgraduate 6 8%
Student > Ph. D. Student 5 7%
Student > Master 5 7%
Student > Bachelor 4 5%
Other 15 20%
Unknown 31 41%
Readers by discipline Count As %
Medicine and Dentistry 10 13%
Psychology 9 12%
Neuroscience 7 9%
Biochemistry, Genetics and Molecular Biology 4 5%
Nursing and Health Professions 3 4%
Other 10 13%
Unknown 32 43%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 13. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 24 October 2021.
All research outputs
#2,397,895
of 23,243,271 outputs
Outputs from Epilepsia
#818
of 5,427 outputs
Outputs of similar age
#64,952
of 408,695 outputs
Outputs of similar age from Epilepsia
#60
of 112 outputs
Altmetric has tracked 23,243,271 research outputs across all sources so far. Compared to these this one has done well and is in the 89th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 5,427 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 9.3. This one has done well, scoring higher than 84% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 408,695 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 84% of its contemporaries.
We're also able to compare this research output to 112 others from the same source and published within six weeks on either side of this one. This one is in the 45th percentile – i.e., 45% of its contemporaries scored the same or lower than it.