Evidence of linkage to chromosome 5p13.2‐q11.1 in a large inbred family with genetic generalized epilepsy

• Published in: Epilepsia (Copenhagen) Vol. 59; no. 8; pp. e125 - e129
• Main Authors: Kinay, Demet, Oliver, Karen L., Tüzün, Erdem, Damiano, John A., Ulusoy, Canan, Andermann, Eva, Hildebrand, Michael S., Bahlo, Melanie, Berkovic, Samuel F.
• Format: Journal Article
• Language: English
• Published: United States Wiley Subscription Services, Inc 01.08.2018
• Subjects: Adolescent; Child; Chromosome 5; Chromosomes, Human, Pair 5 - genetics; Consanguinity; EEG; Epilepsy; Epilepsy, Generalized - genetics; Eyelid; Family Health; Female; Firing pattern; Genetic Linkage; genetics; Haplotypes; HCN1; Heredity; Humans; Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels - genetics; Inbreeding; Ion channels (cyclic nucleotide-gated); juvenile myoclonic epilepsy; linkage analysis; Male; Phenotypes; Phenotyping; Polymorphism, Single Nucleotide - genetics; Seizures; Turkey; Young Adult; Turkey; genetics; linkage analysis; consanguinity; juvenile myoclonic epilepsy; HCN1

Summary The clinical genetics of genetic generalized epilepsy suggests complex inheritance; large pedigrees, with multiple affected individuals, are rare exceptions. We studied a large consanguineous family from Turkey where extensive electroclinical phenotyping revealed a familial phenotype most cl...