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"Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency.

par Gaspard, Nicolas ;Suls, Arvid;Vilain, Catheline ;de Jonghe, Peter;Van Bogaert, Patrick
Référence Epileptic disorders, 13, 3, page (300-303)
Publication Publié, 2011-09

Article révisé par les pairs

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Résumé :

We report the case of a young boy carrying a de novo missense mutation (c.1199G>T; p.R400L) in the SLC2A1 gene who presented initially with benign myoclonic epilepsy of infancy. Eventually, he had a poor outcome with refractory generalised tonic-clonic, myoclonic and absence seizures, ataxia, significant mental impairment and slowing of head growth. He responded poorly to ketogenic diet. This case extends the phenotype of GLUT1-related syndromes and also sheds light on the genetic basis of myoclonic epilepsies of infancy suggesting that variable outcome may depend on genetic factors. [Published with video sequences].