Atypical vitamin B6 deficiency: A rare cause of unexplained neonatal and infantile epilepsies

Journal of Child Neurology

Volumn 29, Issue 5, 2014, Pages 704-707

  Baumgart, Anna ^a   Spiczak, Sarah Von ^a   Verhoeven Duif, Nanda M ^b   Møller, Rikke S ^c   Boor, Rainer ^d   Muhle, Hiltrud ^a   Jähn, Johanna A ^a   Klitten, Laura L ^c   Hjalgrim, Helle ^c,e   Lindhout, Dick ^b   Stephani, Ulrich ^a   Van Kempen, Marjan J A ^b   Helbig, Ingo ^a  

^a UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c DANISH EPILEPSY CENTRE   (Denmark)

^d Northern German Epilepsy Center   (Germany)

^e UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

Author keywords

ALDH7A1 deficiency; childhood epilepsy; Dravet syndrome; vitamin B6 dependent epilepsy

Indexed keywords

ALDEHYDE DEHYDROGENASE; ALDEHYDE DEHYDROGENASE 7A1; ANTICONVULSIVE AGENT; PYRIDOXINE; UNCLASSIFIED DRUG; ALDH7A1 PROTEIN, HUMAN;

ARTICLE; ATONIC SEIZURE; CHILD; COMPUTER ASSISTED TOMOGRAPHY; EPILEPSY; FEBRILE CONVULSION; FEMALE; FEVER; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; PYRIDOXINE DEFICIENCY; SEVERE MYOCLONIC EPILEPSY IN INFANCY; TONIC CLONIC SEIZURE; TREATMENT RESPONSE; CASE REPORT; COMPLICATION; ELECTROENCEPHALOGRAPHY; GENETICS; MUTATION; RETROSPECTIVE STUDY; SPASMS, INFANTILE;

ALDEHYDE DEHYDROGENASE; ELECTROENCEPHALOGRAPHY; HUMANS; INFANT; MALE; MUTATION; RETROSPECTIVE STUDIES; SPASMS, INFANTILE; VITAMIN B 6 DEFICIENCY;

EID: 84899701412     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073813505354     Document Type: Article

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