Partial status epilepticus - Rapid genetic diagnosis of Alpers' disease

European Journal of Paediatric Neurology

Volumn 15, Issue 6, 2011, Pages 558-562

  McCoy, Bláthnaid ^a,c   Owens, Cormac ^a   Howley, Rachel ^b   Ryan, Stephanie ^a   King, Mary ^a   Farrell, Michael A ^b   Lynch, Bryan J ^a  

^a CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^b BEAUMONT HOSPITAL   (Ireland)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

Author keywords

Alpers' disease; Genetics; Mitochondrial; Status epilepticus

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; FOSPHENYTOIN SODIUM; LORAZEPAM; MIDAZOLAM; PHENOBARBITAL; PROPOFOL; THIOPENTAL;

ALPERS DISEASE; ARTICLE; BRAIN DISEASE; CASE REPORT; CHILD; DIAGNOSTIC ACCURACY; ELECTROENCEPHALOGRAPHY; EPILEPTIC STATE; FEMALE; FOCAL EPILEPSY; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; LIVER DISEASE; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; RADIODIAGNOSIS;

CHILD, PRESCHOOL; DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER; DNA-DIRECTED DNA POLYMERASE; ELECTROENCEPHALOGRAPHY; FEMALE; HUMANS; INFANT; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MUTATION; STATUS EPILEPTICUS;

EID: 80054091728     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2011.05.012     Document Type: Article

References (9)

1. B.J. Alpers Diffuse progressive degeneration of gray matter of cerebrum Arch Neurol Psychiat 25 1931 469 505
2. N. Gordon Alpers' syndrome: progressive neuronal degeneration of children with liver disease Dev Med Child Neurol 48 12 2006 1001 1003 (Pubitemid 44768806)
3. K.V. Nyugen, F.S. Sharief, S.S. Chan, W.C. Copeland, and R.K. Naviaux Molecular diagnosis of Alpers syndrome J Hepatol 45 1 2006 108 116 (Pubitemid 44183678)
4. B.N. Harding Progressive neuronal degeneration of childhood with liver disease (Alpers-Huttenlocher syndrome): a personal review J Child Neurol 5 4 1990 273 287 (Pubitemid 20319417)
5. G. Ferrari, E. Lamantea, A. Donati, M. Filosto, E. Briem, and F. Carrara Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase gamma Brain 128 2005 723 731 (Pubitemid 40516911)
6. M.I. Wolf, S. Rahman, and B. Schmitt Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features Epilepsia 50 6 2009 1596 1607
7. S.G. Boyd, A. Harden, J. Egger, and G. Pampiglione Progressive neuronal degeneration of childhood with liver disease (Alpers' disease): characteristic neurophysiologic features Neuropediatrics 17 1986 75 80 (Pubitemid 16061160)
8. M. Milone, and R. Massie Polymerase gamma 1 mutations: clinical correlations Neurologist 16 2 2010 84 91
9. R.P. Saneto, I.C. Lee, and M.K. Koenig POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for paediatric seizure disorders Seizure 19 3 2010 140 146