Epilepsy and inborn errors of metabolism in children.
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Epilepsy and inborn errors of metabolism in children. / Wolf, Nicole I; García-Cazorla, A; Hoffmann, G F.
in: J INHERIT METAB DIS, Jahrgang 32, Nr. 5, 5, 2009, S. 609-617.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Epilepsy and inborn errors of metabolism in children.
AU - Wolf, Nicole I
AU - García-Cazorla, A
AU - Hoffmann, G F
PY - 2009
Y1 - 2009
N2 - Epilepsy is a frequent symptom in inborn errors of metabolism, with virtually no specific seizure types or EEG signatures. It is most important to look quickly for those few inborn errors of metabolism in which specific therapies such as supplementation of cofactors or diets can make all the difference. If these investigations remain negative, epilepsy has to be treated with conventional antiepileptic drugs. Still, epilepsy is a potentially treatable symptom of many inborn errors of metabolism, and optimal treatment is of great importance for patients and their families.
AB - Epilepsy is a frequent symptom in inborn errors of metabolism, with virtually no specific seizure types or EEG signatures. It is most important to look quickly for those few inborn errors of metabolism in which specific therapies such as supplementation of cofactors or diets can make all the difference. If these investigations remain negative, epilepsy has to be treated with conventional antiepileptic drugs. Still, epilepsy is a potentially treatable symptom of many inborn errors of metabolism, and optimal treatment is of great importance for patients and their families.
KW - Humans
KW - Adolescent
KW - Child
KW - Infant, Newborn
KW - Metabolism, Inborn Errors complications
KW - Age of Onset
KW - Epilepsy diagnosis
KW - Humans
KW - Adolescent
KW - Child
KW - Infant, Newborn
KW - Metabolism, Inborn Errors complications
KW - Age of Onset
KW - Epilepsy diagnosis
M3 - SCORING: Zeitschriftenaufsatz
VL - 32
SP - 609
EP - 617
JO - J INHERIT METAB DIS
JF - J INHERIT METAB DIS
SN - 0141-8955
IS - 5
M1 - 5
ER -