Pain & Central Nervous System Week via NewsEdge :

2008 OCT 6 - (NewsRx.com) -- According to recent research from Paris, France, "Mutations in the ARX gene are responsible for a wide variety of mental retardation conditions including X-linked infantile spasms (ISSX) and generalized dystonia (see also Infantile Spasm). However, electroclinical descriptions in patients with ISSX carrying ARX mutations are scarce."

"Here, we report on the electroclinical features of a 4-year-old boy with an expansion of the trinucleotide repeat in the ARX gene. Epilepsy started at 2 months of age with subclinical spasms that consisted of episodes of eye rolling combined with atypical hypsarrhythmia. Later, the condition evolved into severe mental retardation with polymorphic ictal episodes that consisted of nocturnal brief axial contractions followed by dyskinetic movement of ail four limbs and diurnal clusters of chaotic movements combined with myoclonic jerks," wrote K. Poirier and colleagues.

The researchers concluded: "EEG recording of these episodes lead to the diagnosis of non-ictal dyskinetic movements."

Poirier and colleagues published their study in Epilepsy Research (Combination of infantile spasms, non-epileptic seizures and complex movement disorder: A new case of ARX-related epilepsy. Epilepsy Research, 2008;80(2-3):224-228).

For additional information, contact K. Poirier, Pediatrics Neurology Hopital Necker Enfants Malad, 149 Rue Sevres, F-75015 Paris, France.

Publisher contact information for the journal Epilepsy Research is: Elsevier Science BV, PO Box 211, 1000 AE Amsterdam, Netherlands.

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