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The Capital Region of Denmark - a part of Copenhagen University Hospital
E-pub ahead of print

Adult phenotype of KCNQ2 encephalopathy

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  • Stephanie Boets
  • Katrine M Johannesen
  • Anne Destree
  • Filippo Manti
  • Georgia Ramantani
  • Gaetan Lesca
  • Laurent Vercueil
  • Mary Kay Koenig
  • Pasquale Striano
  • Rikke Steensbjerre Møller
  • Edward Cooper
  • Sarah Weckhuysen
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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.

Original languageEnglish
Article number107449
JournalJournal of Medical Genetics
Publication statusE-pub ahead of print - 2022
Externally publishedYes

Bibliographical note

© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.

    Research areas

  • and neonatal diseases and abnormalities, congenital, epilepsy, genetics, hereditary, medical, phenotype, prognosis

ID: 75206765