BACKGROUND: The mechanisms of genotype-phenotype interaction in Familiar Hemiplegic migraine type 2 (FHM2) are still far from clear. Different ATP1A2 mutations have been described, with a spectrum of phenotypes ranging from mild to severe. No genotype-phenotype correlations have been attempted.CASE PRESENTATION: We describe an Italian family with FHM and a missense ATP1A2 variant (L425H) not previously described. The clinical picture was mild in all the affected members.CONCLUSIONS: Co-segregation of the variant with the aura phenotype was complete in this family, suggesting a 100% penetrance. In silico protein prediction softwares indicate that this variant may change the 3D structure of ATPA1A2 at the cytoplasmic loop between the two cent...
Basilar migraine (BM), familial hemiplegic migraine (FHM), and sporadic hemiplegic migraine (SHM) ar...
Hemiplegic migraine (HM) is a rare form of migraine characterized by severe attacks of unilateral an...
Migraine is a recurrent neurovascular disease. Its two most common forms—migraine without aura (MO) ...
BACKGROUND: The mechanisms of genotype-phenotype interaction in Familiar Hemiplegic migraine type 2 ...
Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura with an autosomal dominan...
Introduction Familial hemiplegic migraine (FHM) is a rare subtype of migraine with transient hemipl...
Abstract Familial hemiplegic migraine (FHM) is an autosomal dominant form of migraine with aura. Th...
Introduction. Familial hemiplegic migraine (FHM) is a rare disorder characterized by migraine attack...
Familial hemiplegic migraine is a rare autosomal dominant subtype of migraine with aura. Three genes...
© The Japan Society of Human Genetics and Springer 2007.Familial hemiplegic migraine is a rare autos...
Familial hemiplegic migraine (FHM) is the only migraine subtype for which a monogenic mode of inheri...
Mutations in the ATP1A2 gene, encoding the alpha2-subunit of the Na+,K+-ATPase, are associated with ...
Familial hemiplegic migraine (FHM) is a rare autosomal dominantly inherited subtype of migraine, in ...
Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura inherited with an autosom...
Hemiplegic migraine (HM) is a rare form of migraine characterized by severe attacks of unilateral an...
Basilar migraine (BM), familial hemiplegic migraine (FHM), and sporadic hemiplegic migraine (SHM) ar...
Hemiplegic migraine (HM) is a rare form of migraine characterized by severe attacks of unilateral an...
Migraine is a recurrent neurovascular disease. Its two most common forms—migraine without aura (MO) ...
BACKGROUND: The mechanisms of genotype-phenotype interaction in Familiar Hemiplegic migraine type 2 ...
Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura with an autosomal dominan...
Introduction Familial hemiplegic migraine (FHM) is a rare subtype of migraine with transient hemipl...
Abstract Familial hemiplegic migraine (FHM) is an autosomal dominant form of migraine with aura. Th...
Introduction. Familial hemiplegic migraine (FHM) is a rare disorder characterized by migraine attack...
Familial hemiplegic migraine is a rare autosomal dominant subtype of migraine with aura. Three genes...
© The Japan Society of Human Genetics and Springer 2007.Familial hemiplegic migraine is a rare autos...
Familial hemiplegic migraine (FHM) is the only migraine subtype for which a monogenic mode of inheri...
Mutations in the ATP1A2 gene, encoding the alpha2-subunit of the Na+,K+-ATPase, are associated with ...
Familial hemiplegic migraine (FHM) is a rare autosomal dominantly inherited subtype of migraine, in ...
Familial hemiplegic migraine (FHM) is a rare subtype of migraine with aura inherited with an autosom...
Hemiplegic migraine (HM) is a rare form of migraine characterized by severe attacks of unilateral an...
Basilar migraine (BM), familial hemiplegic migraine (FHM), and sporadic hemiplegic migraine (SHM) ar...
Hemiplegic migraine (HM) is a rare form of migraine characterized by severe attacks of unilateral an...
Migraine is a recurrent neurovascular disease. Its two most common forms—migraine without aura (MO) ...