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Title
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Adult phenotype of KCNQ2 encephalopathy
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Author
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Abstract
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| Background: Pathogenic KCNQ2 variants are a frequent cause of developmental and epileptic encephalopathy. Methods: We recruited 13 adults (between 18 years and 45 years of age) with KCNQ2 encephalopathy and reviewed their clinical, EEG, neuroimaging and treatment history. Results: While most patients had daily seizures at seizure onset, seizure frequency declined or remitted during childhood and adulthood. The most common seizure type was tonic seizures (early) infancy, and tonic-clonic and focal impaired awareness seizures later in life. Ten individuals (77%) were seizure-free at last follow-up. In 38% of the individuals, earlier periods of seizure freedom lasting a minimum of 2 years followed by seizure recurrence had occurred. Of the 10 seizure-free patients, 4 were receiving a single antiseizure medication (ASM, carbamazepine, lamotrigine or levetiracetam), and 2 had stopped taking ASM. Intellectual disability (ID) ranged from mild to profound, with the majority (54%) of individuals in the severe category. At last contact, six individuals (46%) remained unable to walk independently, six (46%) had limb spasticity and four (31%) tetraparesis/tetraplegia. Six (46%) remained non-verbal, 10 (77%) had autistic features/autism, 4 (31%) exhibited aggressive behaviour and 4 (31%) destructive behaviour with self-injury. Four patients had visual problems, thought to be related to prematurity in one. Sleep problems were seen in six (46%) individuals. Conclusion: Seizure frequency declines over the years and most patients are seizure-free in adulthood. Longer seizure-free periods followed by seizure recurrence are common during childhood and adolescence. Most adult patients have severe ID. Motor, language and behavioural problems are an issue of continuous concern. |
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Language
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English
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Source (journal)
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Journal of medical genetics. - London, 1964, currens
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Publication
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London
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British Medical Association
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2021
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ISSN
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0022-2593
[Print]
1468-6244
[Online]
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DOI
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10.1136/JMEDGENET-2020-107449
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Volume/pages
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(2021)
, 8 p.
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ISI
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000728117300001
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Pubmed ID
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33811133
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Full text (Publisher's DOI)
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Full text (open access)
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Full text (publisher's version - intranet only)
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