Early Myoclonic Encephalopathy in 9q33-q34 Deletion Encompassing STXBP1 and SPTAN1

Annals of Human Genetics

Volumn 79, Issue 3, 2015, Pages 209-217

  Nicita, Francesco ^a   Ulgiati, Fiorenza ^a   Bernardini, Laura ^b   Garone, Giacomo ^a   Papetti, Laura ^a   Novelli, Antonio ^b   Spalice, Alberto ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

9q33 q34; deletion; DNM1; early myoclonic encephalopathy; EIEE; SPTAN1; STXBP1

Indexed keywords

CLOBAZAM; LAMOTRIGINE; PHENOBARBITAL; PREDNISONE; PYRIDOXINE; VIGABATRIN; ZONISAMIDE; ACTIN BINDING PROTEIN; CARRIER PROTEIN; FODRIN; MUNC18 PROTEIN; STXBP1 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN DISEASE; CASE REPORT; CHILD; CHROMOSOME; CLINICAL ARTICLE; CORPUS CALLOSUM; CORPUS CALLOSUM AGENESIS; DRUG DOSE INCREASE; DYSTONIA; EARLY MYOCLONIC ENCEPHALOPATHY; ELECTROENCEPHALOGRAM; EPILEPTIC DISCHARGE; FACE DYSMORPHIA; FEMALE; FOLLOW UP; GENE; GENE DELETION; HUMAN; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; MUSCLE SPASM; MYOCLONUS; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; SEIZURE; SPTAN1 GENE; STXBP1 GENE; CHROMOSOME 9; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; GENETICS; INFANT; INFANTILE SPASM;

CARRIER PROTEINS; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 9; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; INFANT; MICROFILAMENT PROTEINS; MUNC18 PROTEINS; PHENOTYPE; SPASMS, INFANTILE;

EID: 84946727775     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/ahg.12106     Document Type: Article

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