Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance

Journal of Applied Genetics

Volumn 56, Issue 1, 2015, Pages 49-56

  Duszyc, Kinga ^a   Terczynska, Iwona ^a   Hoffman Zacharska, Dorota ^a  

^a INSTITUTE OF MOTHER AND CHILD   (Poland)

Author keywords

EFMR; Epileptic encephalopathy; PCDH19; Protocadherin 19; X linked inheritance

Indexed keywords

MEMBRANE PROTEIN; PROTOCADHERIN 19; SODIUM CHANNEL NAV1.1; UNCLASSIFIED DRUG; CADHERIN; PCDH19 PROTEIN, HUMAN;

BEHAVIOR DISORDER; BRAIN DEVELOPMENT; BRAIN DISEASE; CELL ADHESION; CLINICAL FEATURE; COGNITION; DISEASE ASSOCIATION; EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY; ELECTROENCEPHALOGRAPHY; EPILEPSY; EPILEPTIC ENCEPHALOPATHY; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; INFANT DISEASE; INTELLECTUAL IMPAIRMENT; LANGUAGE DELAY; PSYCHOSOCIAL WITHDRAWAL; REVIEW; SEVERE MYOCLONIC EPILEPSY IN INFANCY; X CHROMOSOMAL INHERITANCE; X LINKED MENTAL RETARDATION; AICARDI SYNDROME; GENETICS; INFANTILE SPASM; INHERITANCE; MALE; PEDIGREE;

AICARDI SYNDROME; CADHERINS; EPILEPSY; FEMALE; HUMANS; INHERITANCE PATTERNS; INTELLECTUAL DISABILITY; MALE; PEDIGREE; SPASMS, INFANTILE;

EID: 84921027295     PISSN: 12341983     EISSN: 21903883     Source Type: Journal    
DOI: 10.1007/s13353-014-0243-8     Document Type: Review

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