Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia

Brain

Volumn 126, Issue 7, 2003, Pages 1537-1544

  Bergmann, Carsten ^a   Zerres, Klaus ^a   Senderek, Jan ^a   Rudnik Schöneborn, Sabine ^a   Eggermann, Thomas ^a   Häusler, Martin ^a   Mull, Michael ^a   Ramaekers, Vincent T ^a  

^a RWTH AACHEN UNIVERSITY   (Germany)

Author keywords

Brain anomalies; Epilepsy; Oligophrenin 1; OPHN1; Rho GTPase; X linked mental retardation

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATAXIA; BRAIN ATROPHY; CEREBELLUM HYPOPLASIA; CHILD; CHROMOSOME XQ; CLINICAL ARTICLE; EPILEPSY; EXON; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; HYPOGONADISM; LATERAL BRAIN VENTRICLE; MALE; MENTAL DEFICIENCY; MYOCLONIC ASTATIC EPILEPSY; NEURORADIOLOGY; NUCLEOTIDE SEQUENCE; OLIGOPHRENIN GENE; PHENOTYPE; PRIORITY JOURNAL; STRABISMUS; X CHROMOSOME LINKED DISORDER;

EID: 0038495879     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awg173     Document Type: Article

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