Variable clinical expression in patients with mosaicism for KCNQ2 mutations

American Journal of Medical Genetics, Part A

Volumn 167, Issue 10, 2015, Pages 2314-2318

  Milh, Mathieu ^a,b,c   Lacoste, Caroline ^a,b,c   Cacciagli, Pierre ^a,b,c   Abidi, Affef ^a,b   Sutera Sardo, Julie ^a,b,c   Tzelepis, Ilias ^a,b   Colin, Estelle ^d   Badens, Catherine ^a,b,c   Afenjar, Alexandra ^e   Coeslier, Anne Dieux ^f   Dailland, Thomas ^g   Lesca, Gaetan ^h   Philip, Nicole ^a,b,c   Villard, Laurent ^a,b  

^a INSERM   (France)

^b AIX MARSEILLE UNIVERSITY   (France)

^c TIMONE HOSPITAL   (France)

^d ANGERS UNIVERSITY HOSPITAL   (France)

^e ARMAND TROUSSEAU HOSPITAL   (France)

^f LILLE UNIVERSITY HOSPITAL   (France)

^g Centre Hospitalier des Pays de Morlaix   (France)

^h UNIVERSITÉ LYON 1   (France)

Author keywords

BFNE; EIEE7; Encephalopathy; Epilepsy; Genetic counseling; KCNQ2; Somatic mosaicism

Indexed keywords

POTASSIUM CHANNEL KCNQ2; POTASSIUM CHANNEL KCNQ3; KCNQ2 PROTEIN, HUMAN;

ARTICLE; CHILD; CONTROLLED STUDY; EPILEPSY; FEMALE; GENE EXPRESSION; GENE IDENTIFICATION; GENE LOCATION; GENETIC COUNSELING; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; INTELLECTUAL IMPAIRMENT; KCNQ2 GENE; KCNQ3 GENE; MISSENSE MUTATION; MOSAICISM; MUTATIONAL ANALYSIS; OHTAHARA SYNDROME; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; AICARDI SYNDROME; DNA MUTATIONAL ANALYSIS; EPILEPSY, BENIGN NEONATAL; EXON; GENETICS; INFANT; INHERITANCE; MALE; MUTATION; NEWBORN; PATHOLOGY; PHENOTYPE; SEVERITY OF ILLNESS INDEX; SPASMS, INFANTILE;

AICARDI SYNDROME; DNA MUTATIONAL ANALYSIS; EPILEPSY, BENIGN NEONATAL; EXONS; FEMALE; GENE EXPRESSION; HUMANS; INFANT; INFANT, NEWBORN; INHERITANCE PATTERNS; KCNQ2 POTASSIUM CHANNEL; MALE; MOSAICISM; MUTATION; PHENOTYPE; SEVERITY OF ILLNESS INDEX; SPASMS, INFANTILE;

EID: 84941259439     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.37152     Document Type: Article

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