Original article Epileptic Disord 2013; 15 (4): 407-16
Epileptic and electroencephalographic manifestations of guanidinoacetatemethyltransferase deficiency Abdul G. Mikati 1 , Ibrahim Abu Gheida 1 , Alhan Shamseddine 2 , Mohamad A Mikati 2,3 , Pascale E Karam 2 1
Faculty of Medicine Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon 3 Duke University Medical Center, T0913J Children Health Center, Division of Pediatric Neurology, Durham, USA 2
doi:10.1684/epd.2013.0609
Received September 7, 2012; Accepted August 28, 2013
Correspondence: Pascale E Karam American University of Beirut Medical Center, Department of Pediatrics and Adolescent Medicine, Riad El Solh street, 1107 2020, Beirut, Lebanon
Epileptic Disord, Vol. 15, No. 4, December 2013
ABSTRACT – Aim. Describe the seizure-related manifestations of guanidinoacetate methyltransferase (GAMT) deficiency in two new cases and compare these to the related literature. Methods. We reviewed the clinical and electroencephalographic manifestations of two siblings with GAMT deficiency. We also performed a thorough literature review of all cases of GAMT deficiency, using the PubMed database, and compared our findings to those previously reported. Results. One sibling presented with LennoxGastaut syndrome while the second had manifestations of late-onset West syndrome. Based on a literature search, we found that the clinical picture of GAMT deficiency has been described in a total of 58 cases, including our two patients, 45 of whom had at least some description of EEG and/or seizure manifestation. Epilepsy was present in 81%, with age at onset usually between 10 months and 3 years. Drug resistance was observed in approximately 45%. Initial seizures were febrile, tonic, or tonic-clonic. Drop attacks and generalised seizures were the most frequent seizure type. Absence and febrile seizures also occurred. Less frequently, focal seizures and lateonset infantile spasms (one prior case) were observed. Multifocal spikes and generalised
Epileptic and electroencephalographic manifestations of guanidinoacetatemethyltransferase deficiency Abdul G. Mikati 1 , Ibrahim Abu Gheida 1 , Alhan Shamseddine 2 , Mohamad A Mikati 2,3 , Pascale E Karam 2 1
Faculty of Medicine Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon 3 Duke University Medical Center, T0913J Children Health Center, Division of Pediatric Neurology, Durham, USA 2
doi:10.1684/epd.2013.0609
Received September 7, 2012; Accepted August 28, 2013
Correspondence: Pascale E Karam American University of Beirut Medical Center, Department of Pediatrics and Adolescent Medicine, Riad El Solh street, 1107 2020, Beirut, Lebanon
Epileptic Disord, Vol. 15, No. 4, December 2013
ABSTRACT – Aim. Describe the seizure-related manifestations of guanidinoacetate methyltransferase (GAMT) deficiency in two new cases and compare these to the related literature. Methods. We reviewed the clinical and electroencephalographic manifestations of two siblings with GAMT deficiency. We also performed a thorough literature review of all cases of GAMT deficiency, using the PubMed database, and compared our findings to those previously reported. Results. One sibling presented with LennoxGastaut syndrome while the second had manifestations of late-onset West syndrome. Based on a literature search, we found that the clinical picture of GAMT deficiency has been described in a total of 58 cases, including our two patients, 45 of whom had at least some description of EEG and/or seizure manifestation. Epilepsy was present in 81%, with age at onset usually between 10 months and 3 years. Drug resistance was observed in approximately 45%. Initial seizures were febrile, tonic, or tonic-clonic. Drop attacks and generalised seizures were the most frequent seizure type. Absence and febrile seizures also occurred. Less frequently, focal seizures and lateonset infantile spasms (one prior case) were observed. Multifocal spikes and generalised
