INTRODUCTION: Alternating hemiplegia of childhood (AHC) is a rare disorder mainly characterized by attacks of hemiplegia and mental retardation. It has been often associated with migraine. The CACNA1A gene on chromosome 19 is involved in familial hemiplegic migraine and other episodic cerebral disorders, but also with progressive neuronal damage. METHODS: We performed mutation analysis in this gene in four AHC patients, using single strand conformation polymorphism analysis. RESULTS: We found nine polymorphisms, but no mutations in any of the 47 exons. CONCLUSIONS: Other cerebral ion channel genes remain candidate genes for AHC.
INTRODUCTION: Alternating hemiplegia of childhood (AHC) is a rare disorder mainly characterized by attacks of hemiplegia and mental retardation. It has been often associated with migraine. The CACNA1A gene on chromosome 19 is involved in familial hemiplegic migraine and other episodic cerebral disorders, but also with progressive neuronal damage. METHODS: We performed mutation analysis in this gene in four AHCpatients, using single strand conformation polymorphism analysis. RESULTS: We found nine polymorphisms, but no mutations in any of the 47 exons. CONCLUSIONS: Other cerebral ion channel genes remain candidate genes for AHC.
Authors: J Haan; E E Kors; Kaate R J Vanmolkot; Arn M J M van den Maagdenberg; Rune R Frants; M D Ferrari Journal: Curr Pain Headache Rep Date: 2005-06
Authors: Eleni Panagiotakaki; Elisa De Grandis; Michela Stagnaro; Erin L Heinzen; Carmen Fons; Sanjay Sisodiya; Boukje de Vries; Christophe Goubau; Sarah Weckhuysen; David Kemlink; Ingrid Scheffer; Gaëtan Lesca; Muriel Rabilloud; Amna Klich; Alia Ramirez-Camacho; Adriana Ulate-Campos; Jaume Campistol; Melania Giannotta; Marie-Laure Moutard; Diane Doummar; Cecile Hubsch-Bonneaud; Fatima Jaffer; Helen Cross; Fiorella Gurrieri; Danilo Tiziano; Sona Nevsimalova; Sophie Nicole; Brian Neville; Arn M J M van den Maagdenberg; Mohamad Mikati; David B Goldstein; Rosaria Vavassori; Alexis Arzimanoglou Journal: Orphanet J Rare Dis Date: 2015-09-26 Impact factor: 4.123