Defining the phenotypic spectrum of SLC6A1 mutations.
Katrine M JohannesenElena GardellaTarja LinnankiviCarolina CourageAnne de Saint MartinAnna-Elina LehesjokiCyril MignotAlexandra AfenjarGaetan LescaMarie-Thérèse Abi-WardeJamel ChellyAmélie PitonJ Lawrence MerrittLance H RodanWen-Hann TanLynne M BirdMark NespecaJoseph G GleesonYongjin YooMurim ChoiJong-Hee ChaeDesiree Czapansky-BeilmanSara Chadwick ReichertManuela PendziwiatJudith S VerhoevenHelenius J SchelhaasOrrin DevinskyJakob ChristensenNicola SpecchioMarina TrivisanoYvonne G WeberCaroline NavaBoris KerenDiane DoummarElise SchaeferSarah HopkinsHolly DubbsJessica E ShawLaura PisaniCandace T MyersSha TangShan TangDeb K PalJohn J MillichapGemma L CarvillKathrine L HelbigOriano MecarelliPasquale StrianoIngo HelbigGuido RubboliHeather C MeffordRikke S MøllerPublished in: Epilepsia (2018)
Most patients carrying pathogenic SLC6A1 variants have an MAE phenotype with language delay and mild/moderate ID before epilepsy onset. However, ID alone or associated with focal epilepsy can also be observed.