Medicine (Austin & Northern Health) - Research Publications

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Author: Bellows, Susannah × Author: Scheffer, Ingrid × End date: 2014 × Start date: 2013 ×

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    Does variation in NIPA2 contribute to genetic generalized epilepsy?
    Hildebrand, MS ; Damiano, JA ; Mullen, SA ; Bellows, ST ; Scheffer, IE ; Berkovic, SF (SPRINGER, 2014-05)
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    Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role
    Hildebrand, MS ; Damiano, JA ; Mullen, SA ; Bellows, ST ; Oliver, KL ; Dahl, H-HM ; Scheffer, IE ; Berkovic, SF (WILEY, 2014-02)
    The availability of glucose, and its glycolytic product lactate, for cerebral energy metabolism is regulated by specific brain transporters. Inadequate energy delivery leads to neurologic impairment. Haploinsufficiency of the glucose transporter GLUT1 causes a characteristic early onset encephalopathy, and has recently emerged as an important cause of a variety of childhood or later-onset generalized epilepsies and paroxysmal exercise-induced dyskinesia. We explored whether mutations in the genes encoding the other major glucose (GLUT3) or lactate (MCT1/2/3/4) transporters involved in cerebral energy metabolism also cause generalized epilepsies. A cohort of 119 cases with myoclonic astatic epilepsy or early onset absence epilepsy was screened for nucleotide variants in these five candidate genes. No epilepsy-causing mutations were identified, indicating that of the major energetic fuel transporters in the brain, only GLUT1 is clearly associated with generalized epilepsy.
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    Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations
    Sadleir, LG ; Agher, D ; Chabrol, E ; Elkouby, L ; Leguern, E ; Paterson, SJ ; Harty, R ; Bellows, ST ; Berkovic, SF ; Scheffer, IE ; Baulac, S (ELSEVIER SCIENCE BV, 2013-12)
    Mutations in LGI1 are found in 50% of families with autosomal dominant epilepsy with auditory features (ADEAF). In ADEAF, family members have predominantly lateral temporal lobe seizures but mesial temporal lobe semiology may also occur. We report here three families with novel LGI1 mutations (p.Ile82Thr, p.Glu225*, c.432-2_436del). Seven affected individuals reported an auditory aura and one a visual aura. A 10-year old boy described a cephalic aura followed by an unpleasant taste and oral automatisms without auditory, visual or psychic features.