Early-life epileptic encephalopathy secondary to SZT2 pathogenic recessive variants

Epileptic Disorders

Volumn 18, Issue 2, 2016, Pages 195-200

  Venkatesan, Charu ^a   Angle, Brad ^b   Millichap, John J ^b  

^a Cincinnati Childrens Hosp Med Ctr   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

Author keywords

Epileptic encephalopathy; Infants; Neuronal migration; Periventricular heterotopia; Seizures; SZT2

Indexed keywords

LAMOTRIGINE; LEVETIRACETAM; PHENOBARBITAL; PYRIDOXINE; TOPIRAMATE; VALPROATE SEMISODIUM; ANTICONVULSIVE AGENT; NERVE PROTEIN; SZT2 PROTEIN, HUMAN; TRIAZINE DERIVATIVE; VALPROIC ACID;

CASE REPORT; CHILD; COGNITIVE DEFECT; DEVELOPMENTAL DISORDER; DRUG DOSE REDUCTION; DRUG DOSE TITRATION; DRUG WITHDRAWAL; ELECTROENCEPHALOGRAM; EPILEPTIC DISCHARGE; EXTRACHROMOSOMAL INHERITANCE; FACE DYSMORPHIA; FOLLOW UP; FRAMESHIFT MUTATION; GENE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC PROCEDURES; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; HYPERTELORISM; INTRACTABLE EPILEPSY; LENNOX GASTAUT SYNDROME; MACROCEPHALY; MALE; MENTAL HEALTH; MOLECULAR PATHOLOGY; MUSCLE HYPOTONIA; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE ANOMALY; PRESCHOOL CHILD; PRIORITY JOURNAL; RECESSIVE INHERITANCE; REVIEW; SEIZURE; STEREOTYPY; SZT2 GENE; TONIC SEIZURE; WHOLE EXOME SEQUENCING; BRAIN; DIAGNOSTIC IMAGING; DRUG RESISTANT EPILEPSY; ELECTROENCEPHALOGRAPHY; GENETICS; INFANT; MUTATION; PERIVENTRICULAR NODULAR HETEROTOPIA; TREATMENT OUTCOME;

ANTICONVULSANTS; BRAIN; CHILD, PRESCHOOL; DRUG RESISTANT EPILEPSY; ELECTROENCEPHALOGRAPHY; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MALE; MUTATION; NERVE TISSUE PROTEINS; PERIVENTRICULAR NODULAR HETEROTOPIA; TREATMENT OUTCOME; TRIAZINES; VALPROIC ACID;

EID: 84976406344     PISSN: 12949361     EISSN: 19506945     Source Type: Journal    
DOI: 10.1684/epd.2016.0828     Document Type: Review

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