Early-onset epileptic encephalopathy with hearing loss in two siblings with TBC1D24 recessive mutations

European Journal of Paediatric Neurology

Volumn 19, Issue 2, 2015, Pages 251-256

  Stražišar, Barbara Gnidovec ^a   Neubauer, David ^a   Paro Panjan, Darja ^a   Writzl, Karin ^b  

^a UNIVERSITY CHILDREN S HOSPITAL   (Slovenia)

^b UNIVERSITY MEDICAL CENTRE LJUBLJANA   (Slovenia)

Author keywords

Deafness; Early onset epileptic encephalopathy; Myoclonic seizures; TBC1D24 gene

Indexed keywords

PHENOBARBITAL; PYRIDOXINE; THIOPENTAL; TOPIRAMATE; VALPROIC ACID; CARRIER PROTEIN; TBC1D24 PROTEIN, HUMAN;

APNEA; ARTICLE; AUDIOLOGY; BLINKING; BRAIN DISEASE; CASE REPORT; CHILD; CLONIC SEIZURE; CYANOSIS; DEVELOPMENTAL DISORDER; DISEASE CONTROL; DRUG TREATMENT FAILURE; DYSKINESIA; DYSTONIA; EARLY ONSET EPILEPTIC ENCEPHALOPATHY; EEG ABNORMALITY; EPILEPSY; EPILEPTIC DISCHARGE; EPILEPTIC STATE; EVOKED AUDITORY RESPONSE; EVOKED BRAIN STEM AUDITORY RESPONSE; EXON; EYE FIXATION; FEMALE; FOLLOW UP; FRAMESHIFT MUTATION; GENE; GENETIC ANALYSIS; HEAD MOVEMENT; HUMAN; INFANT; INTENSIVE CARE; MALE; MICROCEPHALY; MISSENSE MUTATION; MUSCLE HYPOTONIA; MYOCLONUS EPILEPSY; MYOCLONUS SEIZURE; NEUROIMAGING; NEXT GENERATION SEQUENCING; NOSE FEEDING; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROPRIOCEPTION; REMISSION; RESPIRATORY FAILURE; RESPIRATORY TRACT INFECTION; SPIKE WAVE; STEREOTYPY; SWALLOWING; TBC1D24 GENE; TRACHEOSTOMY; COMPLICATION; DEVELOPMENTAL DISABILITIES; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; EPILEPSY, TONIC-CLONIC; FATALITY; GENETICS; HEARING LOSS, SENSORINEURAL; MUTATION; NEWBORN; RECESSIVE GENE; SIBLING;

BRAIN DISEASES; CARRIER PROTEINS; DEVELOPMENTAL DISABILITIES; ELECTROENCEPHALOGRAPHY; EPILEPSIES, MYOCLONIC; EPILEPSY; EPILEPSY, TONIC-CLONIC; FATAL OUTCOME; FEMALE; FRAMESHIFT MUTATION; GENES, RECESSIVE; HEARING LOSS, SENSORINEURAL; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUSCLE HYPOTONIA; MUTATION; MUTATION, MISSENSE; SIBLINGS;

EID: 84923193188     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2014.12.011     Document Type: Article

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