A newly discovered LGI1 mutation in Korean family with autosomal dominant lateral temporal lobe epilepsy

Seizure

Volumn 23, Issue 1, 2014, Pages 69-73

  Lee, Moon Kyu ^a,d   Kim, So Won ^a,b   Lee, Ji Hyun ^a   Cho, Yang Je ^a   Kim, Doh Eui ^a   Lee, Byung In ^a   Kim, Ho Min ^c   Lee, Min Goo ^a,b   Heo, Kyoung ^a  

^a Yonsei University College of Medicine   (South Korea)

^b Yonsei University   (South Korea)

^c Korea Advanced Institute of Science and Technology (KAIST)   (South Korea)

^d University of Ulsan College of Medicine   (South Korea)

Author keywords

Clinical features; Genetic analysis; Korean ADLTE family; LGI1; Mutation

Indexed keywords

CARBAMAZEPINE; CARRIER PROTEIN; LAMOTRIGINE; PHENOBARBITAL; PHENYTOIN; PROTEIN LGI1; TOPIRAMATE; UNCLASSIFIED DRUG; VALPROIC ACID;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; COMPLEX PARTIAL SEIZURE; DNA FLANKING REGION; EXON; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; KOREA; LATERAL TEMPORAL LOBE EPILEPSY; LGI1 GENE; MALE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; PROTEIN SECRETION; PROTEIN STABILITY; PROTEIN STRUCTURE; SINGLE NUCLEOTIDE POLYMORPHISM; TONIC CLONIC SEIZURE;

CLINICAL FEATURES; GENETIC ANALYSIS; KOREAN ADLTE FAMILY; LGI1; MUTATION;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; EPILEPSY, TEMPORAL LOBE; FEMALE; GENES, DOMINANT; HEK293 CELLS; HUMANS; MALE; MIDDLE AGED; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN STRUCTURE, SECONDARY; PROTEINS; YOUNG ADULT;

EID: 84891165765     PISSN: 10591311     EISSN: 15322688     Source Type: Journal    
DOI: 10.1016/j.seizure.2013.10.001     Document Type: Article

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