Pyridoxine-dependent epilepsy due to antiquitin deficiency: Achieving a favourable outcome

Epileptic Disorders

Volumn 15, Issue 4, 2013, Pages 400-406

  Oliveira, Renata ^a   Pereira, Cristina ^a   Rodrigues, Fidjy ^a   Alfaite, Claudia ^a   Garcia, Paula ^a,b   Robalo, Conceição ^a   Fineza, Isabel ^a   Gonca̧lves, Olavo ^a   Struys, Eduard ^b   Salomons, Gajja ^b   Jakobs, Cornelis ^b   Diogo, Luísa ^a,b  

^a CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

AASA; ALDH7A1; Pyridoxine dependent epilepsy

Indexed keywords

ALPHA AMINOADIPIC SEMIALDEHYDE; AMINOADIPATE SEMIALDEHYDE DEHYDROGENASE; ANTIQUITIN; CARBAMAZEPINE; ETIRACETAM; OXOAMINO ACID; PHENOBARBITAL; PHENYTOIN; PYRIDOXINE; TOPIRAMATE; UNCLASSIFIED DRUG; VALPROIC ACID;

ADULT; ALDH7A1 GENE; ARTICLE; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; CORPUS CALLOSUM AGENESIS; DOSE RESPONSE; DRUG DOSE INCREASE; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPTIC STATE; FEVER; GENE; GENE MUTATION; HUMAN; MALE; MYOCLONUS SEIZURE; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRIDOXINE DEPENDENT EPILEPSY; SCHOOL CHILD; SEIZURE; TONIC CLONIC SEIZURE; TREMOR; YOUNG ADULT;

ALDH7A1; PYRIDOXINE-DEPENDENT EPILEPSY; Α-AASA;

ADULT; ALDEHYDE DEHYDROGENASE; CHILD; ELECTROENCEPHALOGRAPHY; EPILEPSY; HUMANS; MALE; MUTATION; PYRIDOXINE; TREATMENT OUTCOME;

EID: 84890885338     PISSN: 12949361     EISSN: 19506945     Source Type: Journal    
DOI: 10.1684/epd.2013.0610     Document Type: Article

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