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Title
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"Benign" myoclonic epilepsy of infancy as the initial presentation of glucose transporter-1 deficiency
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Author
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Abstract
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| 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. |
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Language
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English
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Source (journal)
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Epileptic disorders. - -
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Publication
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2011
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ISSN
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1294-9361
[print]
1950-6945
[online]
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DOI
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10.1684/EPD.2011.0452
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Volume/pages
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13
:3
(2011)
, p. 300-303
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ISI
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000296567000010
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Full text (Publisher's DOI)
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