Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome;Nueva mutación en el gen STXBP1 en un paciente con síndrome de Ohtahara no lesional

Neurologia

Volumn 31, Issue 8, 2016, Pages 523-527

  Ortega Moreno, L ^a,b   Giraldez B G ^a,b   Verdu A ^c   Garcia Campos O ^c   Sanchez Martin G ^a,b   Serratosa, J M ^a,b   Guerrero Lopez R ^a,b  

^a UAM)   (Spain)

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

^c HOSPITAL VIRGEN DE LA SALUD   (Spain)

Author keywords

Clinical genetics; Early onset epileptic encephalopathy; Epilepsy; Ohtahara syndrome; STXBP1

Indexed keywords

BINDING PROTEIN; SYNTAXIN BINDING PROTEIN 1; UNCLASSIFIED DRUG; MUNC18 PROTEIN; STXBP1 PROTEIN, HUMAN;

ARTICLE; CASE REPORT; EXOCYTOSIS; EXON; GENE; GENE MUTATION; HUMAN; INFANT; NUCLEAR MAGNETIC RESONANCE IMAGING; OHTAHARA SYNDROME; STXBP1 GENE; SYNAPSE VESICLE; DIAGNOSTIC IMAGING; GENETICS; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; MALE; MUTATION; PRESCHOOL CHILD; PSYCHOLOGY;

CHILD, PRESCHOOL; EXONS; HUMANS; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; MUNC18 PROTEINS; MUTATION; SPASMS, INFANTILE;

EID: 84921473867     PISSN: 02134853     EISSN: 15781968     Source Type: Journal    
DOI: 10.1016/j.nrl.2014.10.017     Document Type: Article

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