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Defining the phenotypic spectrum of SLC6A1 mutations

Objective: Pathogenic SLC6A1 variants were recently described in patients  with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to define the phenotypic spectrum in a larger cohort of SCL6A1-mutated patients. Methods: We collected 24 SLC6A1 probands and 6 affected family members. Four previously published cases were included for further electroclinical description. In […]

Decreased functional connectivity within a language subnetwork in benign epilepsy with centrotemporal spikes

Objective: Benign epilepsy with centrotemporal spikes (BECTS, also known as Rolan- dic epilepsy) is a common epilepsy syndrome that is associated with literacy and lan- guage impairments. The neural mechanisms of the syndrome are not known. The primary objective of this study was to test the hypothesis that functional connectivity within the language network is […]

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Please complete the form below to register your interest in the upcoming symposium. For questions and further details please contact amber.collingwood@kcl.ac.uk.

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