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KCNT1-related epilepsies and epileptic encephalopathies:phenotypic and mutational spectrum
- Source :
- Bonardi , C M , Heyne , H O , Fiannacca , M , Fitzgerald , M P , Gardella , E , Gunning , B , Olofsson , K , Lesca , G , Verbeek , N , Stamberger , H , Striano , P , Zara , F , Mancardi , M M , Nava , C , Syrbe , S , Buono , S , Baulac , S , Coppola , A , Weckhuysen , S , Schoonjans , A S , Ceulemans , B , Sarret , C , Baumgartner , T , Muhle , H , Portes , V D , Toulouse , J , Nougues , M C , Rossi , M , Demarquay , G , Ville , D C D S , Hirsch , E , Maurey , HC D S , Willems , M , De Bellescize , J , Altuzarra , C D , Villeneuve , N , Bartolomei , F , Picard , F , Hornemann , F , Koolen , D A , Kroes , H Y , Reale , C , Fenger , C D , Tan , W H , Dibbens , L , Bearden , D R , Møller , R S & Rubboli , G 2021 , ' KCNT1-related epilepsies and epileptic encephalopathies : phenotypic and mutational spectrum ' , Brain , vol. 144 , no. 12 , pp. 3635-3650 .
- Publication Year :
- 2021
-
Abstract
- Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with a spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermotor epilepsy to epilepsy of infancy with migrating focal seizures (EIMFS) and include developmental and epileptic encephalopathies. This study aims to provide a comprehensive overview of the phenotypic and genotypic spectrum of KCNT1 mutation-related epileptic disorders in 248 individuals, including 66 previously unpublished and 182 published cases, the largest cohort reported so far. Four phenotypic groups emerged from our analysis: (i) EIMFS (152 individuals, 33 previously unpublished); (ii) developmental and epileptic encephalopathies other than EIMFS (non-EIMFS developmental and epileptic encephalopathies) (37 individuals, 17 unpublished); (iii) autosomal dominant or sporadic sleep-related hypermotor epilepsy (53 patients, 14 unpublished); and (iv) other phenotypes (six individuals, two unpublished). In our cohort of 66 new cases, the most common phenotypic features were: (i) in EIMFS, heterogeneity of seizure types, including epileptic spasms, epilepsy improvement over time, no epilepsy-related deaths; (ii) in non-EIMFS developmental and epileptic encephalopathies, possible onset with West syndrome, occurrence of atypical absences, possible evolution to developmental and epileptic encephalopathies with sleep-related hypermotor epilepsy features; one case of sudden unexplained death in epilepsy; (iii) in autosomal dominant or sporadic sleep-related hypermotor epilepsy, we observed a high prevalence of drug-resistance, although seizure frequency improved with age in some individuals, appearance of cognitive regression after seizure onset in all patients, no reported severe psychiatric disorders, although behavioural/psychiatric comorbidities were reported in ∼50% of the patients, sudden unexplained death in epilepsy
Details
- Database :
- OAIster
- Journal :
- Bonardi , C M , Heyne , H O , Fiannacca , M , Fitzgerald , M P , Gardella , E , Gunning , B , Olofsson , K , Lesca , G , Verbeek , N , Stamberger , H , Striano , P , Zara , F , Mancardi , M M , Nava , C , Syrbe , S , Buono , S , Baulac , S , Coppola , A , Weckhuysen , S , Schoonjans , A S , Ceulemans , B , Sarret , C , Baumgartner , T , Muhle , H , Portes , V D , Toulouse , J , Nougues , M C , Rossi , M , Demarquay , G , Ville , D C D S , Hirsch , E , Maurey , HC D S , Willems , M , De Bellescize , J , Altuzarra , C D , Villeneuve , N , Bartolomei , F , Picard , F , Hornemann , F , Koolen , D A , Kroes , H Y , Reale , C , Fenger , C D , Tan , W H , Dibbens , L , Bearden , D R , Møller , R S & Rubboli , G 2021 , ' KCNT1-related epilepsies and epileptic encephalopathies : phenotypic and mutational spectrum ' , Brain , vol. 144 , no. 12 , pp. 3635-3650 .
- Notes :
- English
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.on1382514321
- Document Type :
- Electronic Resource