Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome

Clinical Genetics

Volumn 89, Issue 2, 2016, Pages 198-204

  Dimassi, S ^a,b,c,d,e   Labalme, A ^a   Ville, D ^a   Calender, A ^a,c   Mignot, C ^f,i   Boutry Kryza, N ^a,b,c   de Bellescize, J ^a   Rivier Ringenbach, C ^h   Bourel Ponchel, E ⁱ   Cheillan, D ^a,c   Simonet, T ^a   Maincent, K ^j   Rossi, M ^a,b   Till, M ^a   Mougou Zerelli, S ^d,e   Edery, P ^a,b,c   Saad, A ^d,e   Heron, D ^f,g   des Portes, V ^a   Sanlaville, D ^a,b,c   Lesca, G ^a,b,c   more..

^a HOSPICES CIVILS DE LYON   (France)

^b LYON NEUROSCIENCE RESEARCH CENTER   (France)

^c UNIVERSITÉ LYON 1   (France)

^d FARHAT HACHED HOSPITAL   (Tunisia)

^e UNIVERSITY OF SOUSSE   (Tunisia)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g SORBONNE UNIVERSITÉ   (France)

^h Nord Ouest Hospital   (France)

ⁱ AMIENS UNIVERSITY HOSPITAL   (France)

^j ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

more..

Author keywords

ALG13; Infantile spasms; KCNQ2; KIF3C; NR2F1; SCN2A; Whole exome sequencing

Indexed keywords

GENOMIC DNA; KINESIN; N METHYL DEXTRO ASPARTIC ACID RECEPTOR 2A; POTASSIUM CHANNEL KCNQ2; SODIUM CHANNEL NAV1.2; TRANSFERRIN;

ARTICLE; AUTISM; BODY DYSMORPHIC DISORDER; BRAIN ATROPHY; CHILD; CLINICAL ARTICLE; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER MODEL; CONGENITAL DISORDER OF GLYCOSYLATION; COPY NUMBER VARIATION; ELECTROENCEPHALOGRAPHY; EXOME; FEMALE; GENE DUPLICATION; GENE EXPRESSION; GENE SEQUENCE; GENETIC ANALYZER; GENETIC VARIABILITY; GENOME ANALYSIS; HUMAN; HYPERTELORISM; HYPSARRHYTHMIA; INFANTILE SPASM; LANGUAGE DISABILITY; LONG PHILTRUM; MALE; MICROCEPHALY; MISSENSE MUTATION; MOLECULAR DIAGNOSIS; MOLECULAR PATHOLOGY; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; QUADRIPLEGIA; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTICITY; SPORADIC INFANTILE SPASM SYNDROME; WESTERN BLOTTING; WHOLE EXOME SEQUENCING; AMINO ACID SEQUENCE; CASE REPORT; CONSERVED SEQUENCE; DNA SEQUENCE; GENETICS; INFANT; MOLECULAR GENETICS; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PREGNANCY; SPASMS, INFANTILE; SYNDROME;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; CONSERVED SEQUENCE; EXOME; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PREGNANCY; SEQUENCE ANALYSIS, DNA; SPASMS, INFANTILE; SYNDROME;

EID: 84938230348     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12636     Document Type: Article

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