Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.
Patra YeetongMohamed E DembéléMonnat PongpanichLassana CisséChalurmpon SrichomthongAlassane B MaigaKékouta DembéléAdjima AssawapitaksakulSalia BambaAbdoulaye YalcouyéSalimata DiarraSamuel Ephrata MefoungSupphakorn RakwongkhachonOumou TraoréSiraprapa TongkobpetchKenneth H FischbeckWilliam A GahlCheick O GuintoVorasuk ShotelersukGuida LandouréPublished in: Movement disorders : official journal of the Movement Disorder Society (2023)
These findings establish a new type of BAFME, BAFME8, in an African family and suggest that haploinsufficiency is unlikely to be the main pathomechanism of BAFME. © 2023 International Parkinson and Movement Disorder Society. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.