OBJECTIVE: To determine if a significant proportion of patients with myoclonic-astatic epilepsy (MAE) have glucose transporter 1 (GLUT1) deficiency. DESIGN: Genetic analysis. SETTING: Ambulatory and hospitalized care. PATIENTS: Eighty-four unrelated probands with MAE were phenotyped and SLC2A1 was sequenced and analyzed by multiplex ligation-dependent probe amplification. Any identified mutations were then screened in controls. MAIN OUTCOME MEASURE: Any SLC2A1 mutations. RESULTS: Four of 84 probands with MAE had a mutation of SLC2A1 on sequencing. Multiplex ligation-dependent probe amplification analysis did not reveal any genomic rearrangements in 75 of the remaining cases; 5 could not be tested. Two patients with MAE with SLC2A1 mutations also developed paroxysmal exertional dyskinesia in childhood. CONCLUSIONS: Five percent of our patients with MAE had SLC2A1 mutations, suggesting that patients with MAE should be tested for GLUT1 deficiency. Diagnosis of GLUT1 deficiency is a strong indication for early use of the ketogenic diet, which may substantially improve outcome of this severe disorder.
OBJECTIVE: To determine if a significant proportion of patients with myoclonic-astatic epilepsy (MAE) have glucose transporter 1(GLUT1) deficiency. DESIGN: Genetic analysis. SETTING: Ambulatory and hospitalized care. PATIENTS: Eighty-four unrelated probands with MAE were phenotyped and SLC2A1 was sequenced and analyzed by multiplex ligation-dependent probe amplification. Any identified mutations were then screened in controls. MAIN OUTCOME MEASURE: Any SLC2A1 mutations. RESULTS: Four of 84 probands with MAE had a mutation of SLC2A1 on sequencing. Multiplex ligation-dependent probe amplification analysis did not reveal any genomic rearrangements in 75 of the remaining cases; 5 could not be tested. Two patients with MAE with SLC2A1 mutations also developed paroxysmal exertional dyskinesia in childhood. CONCLUSIONS: Five percent of our patients with MAE had SLC2A1 mutations, suggesting that patients with MAE should be tested for GLUT1 deficiency. Diagnosis of GLUT1 deficiency is a strong indication for early use of the ketogenic diet, which may substantially improve outcome of this severe disorder.
Authors: Maureen S Mulhern; Constance Stumpel; Nicholas Stong; Han G Brunner; Louise Bier; Natalie Lippa; James Riviello; Rob P W Rouhl; Marlies Kempers; Rolph Pfundt; Alexander P A Stegmann; Mary K Kukolich; Aida Telegrafi; Anna Lehman; Elena Lopez-Rangel; Nada Houcinat; Magalie Barth; Nicolette den Hollander; Mariette J V Hoffer; Sarah Weckhuysen; Jolien Roovers; Tania Djemie; Diana Barca; Berten Ceulemans; Dana Craiu; Johannes R Lemke; Christian Korff; Heather C Mefford; Candace T Meyers; Zsuzsanna Siegler; Susan M Hiatt; Gregory M Cooper; E Martina Bebin; Lot Snijders Blok; Hermine E Veenstra-Knol; Evan H Baugh; Eva H Brilstra; Catharina M L Volker-Touw; Ellen van Binsbergen; Anya Revah-Politi; Elaine Pereira; Danielle McBrian; Mathilde Pacault; Bertrand Isidor; Cedric Le Caignec; Brigitte Gilbert-Dussardier; Frederic Bilan; Erin L Heinzen; David B Goldstein; Servi J C Stevens; Tristan T Sands Journal: Ann Neurol Date: 2018-10-25 Impact factor: 10.422
Authors: Karen E Wain; Emily Palen; Juliann M Savatt; Devin Shuman; Brenda Finucane; Andrea Seeley; Thomas D Challman; Scott M Myers; Christa Lese Martin Journal: Hum Mutat Date: 2018-11 Impact factor: 4.878
Authors: Toni S Pearson; Cigdem Akman; Veronica J Hinton; Kristin Engelstad; Darryl C De Vivo Journal: Curr Neurol Neurosci Rep Date: 2013-04 Impact factor: 5.081