RT Journal Article SR Electronic T1 Adult phenotype of KCNQ2 encephalopathy JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP jmedgenet-2020-107449 DO 10.1136/jmedgenet-2020-107449 A1 Stephanie Boets A1 Katrine M Johannesen A1 Anne Destree A1 Filippo Manti A1 Georgia Ramantani A1 Gaetan Lesca A1 Laurent Vercueil A1 Mary Kay Koenig A1 Pasquale Striano A1 Rikke Steensbjerre Møller A1 Edward Cooper A1 Sarah Weckhuysen YR 2021 UL http://jmg.bmj.com/content/early/2021/04/01/jmedgenet-2020-107449.abstract AB 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.All data relevant to the study are included in the article or uploaded as supplementary information.