Phenotype: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)


OMIM: 254800
Inheritance: Autosomal recessive
Classification: Diseases of the nervous system

Related informations: Orphanet    Gene Tests    Clinical Synopsis    Clinical Trials

CSTB || c.-210CCCCGCCCCGCG(2_3)

Gene/Locus:    CSTB
Dna Change:    c.-210CCCCGCCCCGCG(2_3)
Protein Change:   
Mutation Type:    Sequence repeat
Mutation Effect:   
Location:    UTR 5-prime
Transcript:    NM_000100.3

PopulationEthnic GroupRegionMutation FrquencyCoalescence TimeReference
AlgeriaNANA43 families/47 North African familiesNAMoulard B et al., 2002Moulard B, Genton P, Grid D, Jeanpierre M, Ouazzani R, Mrabet A, Morris M, LeGuern E, Dravet C, Mauguière F, Utermann B, Baldy-Moulinier M, Belaidi H, Bertran F, Biraben A, Ali Chérif A, Chkili T, Crespel A, Darcel F, Dulac O, Geny C, Humbert-Claude V, Kassiotis P, Buresi C, Malafosse A, . Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.. Hum. Genet.. 2002; 111(3):255-62
MoroccoNANA43 families/47 North African familiesNAMoulard B et al., 2002Moulard B, Genton P, Grid D, Jeanpierre M, Ouazzani R, Mrabet A, Morris M, LeGuern E, Dravet C, Mauguière F, Utermann B, Baldy-Moulinier M, Belaidi H, Bertran F, Biraben A, Ali Chérif A, Chkili T, Crespel A, Darcel F, Dulac O, Geny C, Humbert-Claude V, Kassiotis P, Buresi C, Malafosse A, . Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.. Hum. Genet.. 2002; 111(3):255-62
TunisiaNANA43 families/47 North African familiesNAMoulard B et al., 2002Moulard B, Genton P, Grid D, Jeanpierre M, Ouazzani R, Mrabet A, Morris M, LeGuern E, Dravet C, Mauguière F, Utermann B, Baldy-Moulinier M, Belaidi H, Bertran F, Biraben A, Ali Chérif A, Chkili T, Crespel A, Darcel F, Dulac O, Geny C, Humbert-Claude V, Kassiotis P, Buresi C, Malafosse A, . Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.. Hum. Genet.. 2002; 111(3):255-62

References

Moulard B, Genton P, Grid D, Jeanpierre M, Ouazzani R, Mrabet A, Morris M, LeGuern E, Dravet C, Mauguière F, Utermann B, Baldy-Moulinier M, Belaidi H, Bertran F, Biraben A, Ali Chérif A, Chkili T, Crespel A, Darcel F, Dulac O, Geny C, Humbert-Claude V, Kassiotis P, Buresi C, Malafosse A, Haplotype study of West European and North African Unverricht-Lundborg chromosomes: evidence for a few founder mutations.Hum. Genet.. 2002; 111(3):255-62