Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

PLoS ONE

Volumn 12, Issue 11, 2017, Pages

  Ortega Moreno, Laura ^a,b   Giráldez, Beatriz G ^a,b   Soto Insuga, Victor ^c   Pozo, Rebeca Losada Del ^c   Rodrigo Moreno, María ^c   Alarcón Morcillo, Cristina ^a,b   Sánchez Martín, Gema ^a,b   Díaz Gómez, Esther ^a,b   Guerrero López, Rosa ^a,b   Serratosa, José M ^a,b   Lorenzo, Gustavo ^d   García Peñas, Juan José ^e   Ruíz Falcó, M Luz ^e   Pérez Jiménez, M Angeles ^e   Cantarín, Verónica ^e   Gil Nagel, Antonio ^f   Toledano, Rafael ^f   García Pérez, Asunción ^g   Verdú, Alfonso ^h   Carrascosa, M Carmen ⁱ   Vivanco, Rosa ^j   Aznar, Gemma ^j   Armstrong, Judith ^b   Martorell, Loreto ^b   Fons, Carmen ^b   García Cazorla, Angels ^b   Arriola, Gema ^k   Vázquez, María ^l   García Romero, Mar ^m   Pérez Villena, Ana ⁿ   more..

^a 28400 Madrid   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARIO FUNDACIÓN JIMÉNEZ DÍAZ   (Spain)

^d HOSPITAL RAMÓN Y CAJAL   (Spain)

^e HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^f HOSPITAL RUBER INTERNACIONAL   (Spain)

^g HOSPITAL UNIVERSITARIO FUNDACIÓN ALCORCÓN   (Spain)

^h HOSPITAL VIRGEN DE LA SALUD   (Spain)

ⁱ Hospitalario Universitario de Albacete   (Spain)

^j UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^k HOSPITAL UNIVERSITARIO DE GUADALAJARA   (Spain)

^l HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

^m HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

ⁿ Hospital la Moraleja   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE TRANSPORTER 1; POTASSIUM CHANNEL KCNQ2; SODIUM CHANNEL NAV1.1;

ALG13 GENE; ARTICLE; ARX GENE; CDKL5 GENE; CHD2 GENE; CHILD; DEVELOPMENTAL DELAY; EPILEPSY; FEMALE; GENE; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GRIN1 GENE; HUMAN; INFANT; KCNQ2 GENE; LENNOX GASTAUT SYNDROME; MAJOR CLINICAL STUDY; MALE; MOLECULAR DIAGNOSIS; NEWBORN; NEXT GENERATION SEQUENCING; ONSET AGE; PCDH19 GENE; POLG GENE; PRESCHOOL CHILD; SCN1A GENE; SLC2A1 GENE; STXBP1 GENE; SYNGAP1 GENE; DEVELOPMENTAL DISORDER; GENETIC PREDISPOSITION; GENETICS;

CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; EPILEPSY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT, NEWBORN; MALE;

EID: 85035779496     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0188978     Document Type: Article

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