isovaleric acid/seizures

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Recurrent attacks of status epilepticus as predominant symptom in 3-methylcrotonyl-CoA carboxylase deficiency.

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A patient with isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency with an unusual clinical presentation is described. The patient presented with clusters of seizures with two or three months disease free interval in the first year of life which then evolved into attacks of status epilepticus

[Clinical characteristics and analysis of mass spectrometric data in 33 patients with maple syrup urine disease].

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OBJECTIVE To explore the clinical characteristics and the diagnostic method of maple syrup urine disease (MSUD). METHODS From January 2003 to December 2011, a total of 14 000 patients with suspected inherited metabolism diseases were tested. The blood levels of leucine and valine of these patients

Ancient and modern anticonvulsants act synergistically in a KCNQ potassium channel binding pocket.

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Epilepsy has been treated for centuries with herbal remedies, including leaves of the African shrub Mallotus oppositifolius, yet the underlying molecular mechanisms have remained unclear. Voltage-gated potassium channel isoforms KCNQ2-5, predominantly KCNQ2/3 heteromers, underlie the neuronal

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