Genetic investigation of sudden unexpected death in epilepsy cohort by panel target resequencing

International Journal of Legal Medicine

Volumn 130, Issue 2, 2016, Pages 331-339

  Coll, Monica ^a   Allegue, Catarina ^a   Partemi, Sara ^c   Mates, Jesus ^a   Del Olmo, Bernat ^a   Campuzano, Oscar ^a   Pascali, Vincenzo ^c   Iglesias, Anna ^a   Striano, Pasquale ^d   Oliva, Antonio ^c   Brugada, Ramon ^a,b  

^a UNIVERSITY OF GIRONA   (Spain)

^b HOSPITAL JOSEP TRUETA   (Spain)

^c CATHOLIC UNIVERSITY   (Italy)

^d UNIVERSITY OF GENOA   (Italy)

Author keywords

Epilepsy; Next generation sequencing; Sudden cardiac death; SUDEP

Indexed keywords

CALCIUM BINDING PROTEIN; EFHC1 PROTEIN, HUMAN; FBN1 PROTEIN, HUMAN; FIBRILLIN 1; HCN1 PROTEIN, HUMAN; HYPERPOLARIZATION ACTIVATED CYCLIC NUCLEOTIDE GATED CHANNEL; KCNQ1 PROTEIN, HUMAN; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNQ1; SCN1A PROTEIN, HUMAN; SCN4A PROTEIN, HUMAN; SODIUM CHANNEL NAV1.1; SODIUM CHANNEL NAV1.4;

ADOLESCENT; ADULT; AGED; EPILEPSY; ETIOLOGY; FEMALE; FORENSIC GENETICS; GENETIC VARIATION; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN; MALE; MIDDLE AGED; PEDIGREE; PROCEDURES; SUDDEN DEATH; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CALCIUM-BINDING PROTEINS; DEATH, SUDDEN; EPILEPSY; FEMALE; FIBRILLIN-1; FORENSIC GENETICS; GENETIC VARIATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; HYPERPOLARIZATION-ACTIVATED CYCLIC NUCLEOTIDE-GATED CHANNELS; KCNQ1 POTASSIUM CHANNEL; MALE; MIDDLE AGED; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; NAV1.4 VOLTAGE-GATED SODIUM CHANNEL; PEDIGREE; POTASSIUM CHANNELS; YOUNG ADULT;

EID: 84959105656     PISSN: 09379827     EISSN: 14371596     Source Type: Journal    
DOI: 10.1007/s00414-015-1269-0     Document Type: Article

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