Seizures and metabolic disease.
Seizures represent an important clinical manifestation of inborn errors of metabolism. The presence of myoclonic seizures and very early onset are clues to a metabolic disorder. Specific correlations between age of seizure onset and electroencephalogram patterns with inborn errors of metabolism are discussed. The explosion of information in neurogenetics and metabolism mandates increasing awareness of appropriate metabolic diagnostic and therapeutic strategies in the setting of certain epilepsies. Specific laboratory, imaging, and treatment considerations are included to present updated material in a field that continues to expand rapidly.
Pearl
Phillip L
PL
Department of Neurology, Children's National Medical Center, 111 Michigan Avenue, NW, Washington, DC 20010, USA. ppearl@cnmc.org
Bennett
Heather D
HD
Khademian
Zarir
Z
D000927:Anticonvulsants / Q000627:therapeutic use; D006801:Humans; D008659:Metabolic Diseases / Q000175:diagnosis* / Q000378:metabolism* / Q000628:therapy; D018696:Neuroprotective Agents / Q000627:therapeutic use; D012640:Seizures / Q000175:diagnosis* / Q000378:metabolism* / Q000628:therapy
D000927:Anticonvulsants; D018696:Neuroprotective Agents
Neurology. 2003 May 13;60(9):1413-7
12743223
Ann Neurol. 2005 Jan;57(1):111-8
15622525
J Child Neurol. 2002 Dec;17 Suppl 3:3S3-7; discussion 3S8
12597050
J Child Neurol. 2002 Dec;17 Suppl 3:3S57-82; discussion 3S82-3
12597056
J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Jul 15;792(1):99-106
12829002
J Child Neurol. 2002 Dec;17 Suppl 3:3S35-45; discussion 3S46-7
12597054
Neurology. 2004 Mar 23;62(6):1016-8
15037717
J Child Neurol. 2002 Dec;17 Suppl 3:3S26-33; discussion 3S33-4
12597053
Ann Neurol. 2000 Sep;48(3):336-43
10976640
BMC Pediatr. 2004 Mar 12;4:5
15102341
J Child Neurol. 2002 Dec;17 Suppl 3:3S9-13; discussion 3S14
12597051
Ann Neurol. 2004 Apr;55(4):599; author reply 599
15048909
Ann Neurol. 2003;54 Suppl 6:S25-31
12891651
Curr Neurol Neurosci Rep. 2004 Mar;4(2):139-46
14984686
J Child Neurol. 2002 Dec;17 Suppl 3:3S48-55; discussion 3S56
12597055
J Child Neurol. 2002 Dec;17 Suppl 3:3S98-102
12597059
J Inherit Metab Dis. 2004;27(3):417-22
15272469
Ann Neurol. 2003;54 Suppl 6:S32-45
12891652
J Child Neurol. 2002 Dec;17 Suppl 3:3S84-7; discussion 3S88
12597057