Abstract
The role of ARX gene in a syndrome of infantile spasms with generalized dystonia was investigated in 6 boys from 4 families at the University of Florence, Italy, and other centers in Italy, Japan, and USA.
Highlights
The role of ARX gene in a syndrome of infantile spasms with generalized dystonia was investigated in 6 boys from 4 families at the University of Florence, Italy, and other centers in Italy, Japan, and USA
Mutation analysis in 115 boys with cryptogenic infantile spasms found an expansion of the first PolyA tract of ARX in 6 (5.2%) ages 2 to 14, from four families, including two pairs of brothers
All six had mental retardation and generalized dystonia that developed at 6 months and progressed to quadriplegic dyskinesia within 2 years
Summary
Seizures occur on hearing or playing music, and often, in response to specific compositions. Laughter as a form of epilepsy (gelastic seizures) is reported, usually in young children with hypothalamic hamartoma (Mullatti N et al Epilepsia 2003;44:13101319) (Ped Neur Briefs Nov 2003;17:81-83). Singing as a musical automatism during seizures is uncommon, the above authors citing reports by Vidailher M et al 1989, and Doherty MJ et al 2002.
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