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■ Abbreviation / Long Form : MAE / myoclonic-astatic epilepsy

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Total Number of Papers: 45
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Abbreviation:   MAE  (>> Co-occurring Abbreviation)
Long Form:   myoclonic-astatic epilepsy
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No. Year Title Co-occurring Abbreviation
2020 A novel GABRB3 variant in Dravet syndrome: Case report and literature review. DS, EEs, LGS, NGS, WS
2020 Clinical and genetic characteristics of patients with Doose syndrome. DD/ID
2020 Concurrent pathogenic variants in SLC6A1/NOTCH1/PRIMPOL genes in a Chinese patient with myoclonic-atonic epilepsy, mild aortic valve stenosis and high myopia. ADHD, ID, WES
2019 A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function. GABA, GAT-1, LGS, YFP
2019 Exome sequencing findings in 27 patients with myoclonic-atonic epilepsy: Is there a major genetic factor? ---
2019 The glucose transporter type 1 (Glut1) syndromes. CAE, CSE, EOAE, GLUT1, Glut1 DS, PED
2019 Usefulness of preschool and school versions of the Behavioral Rating Inventory of Executive Functions in the evaluation of the daily life executive function in myoclonic-atonic epilepsy. BRIEF-P, EF, TDC, WM
2018 Defining the phenotypic spectrum of SLC6A1 mutations. EEG, ID
2017 Efficacy of a ketogenic diet in resistant myoclono-astatic epilepsy: A French multicenter retrospective study. KD
10  2017 Modified Atkins diet is an effective treatment for children with Doose syndrome. AEDs, KD, MAD
11  2016 Does Autoimmunity have a Role in Myoclonic Astatic Epilepsy? A Case Report of Voltage Gated Potassium Channel Mediated Seizures. ---
12  2016 Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy. ---
13  2015 CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures. CHD2
14  2015 High-fat diets and seizure control in myoclonic-astatic epilepsy: a single center's experience. KD, MAD
15  2015 MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION. CNVs, FISH
16  2015 Paradoxical exacerbation of myoclonic-astatic seizures by levetiracetam in myoclonic astatic epilepsy. AED
17  2015 Study of epileptic drop attacks in symptomatic epilepsy of early childhood - differences from those in myoclonic-astatic epilepsy. EDA, ES
18  2015 The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome. EOAE, GGE, GLUT1, ID
19  2014 Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy. ---
20  2014 EEG-fMRI in myoclonic astatic epilepsy (Doose syndrome). BOLD, GSW
21  2014 Neuroimaging and electroencephalographic changes after vagus nerve stimulation in a boy with medically intractable myoclonic astatic epilepsy. VNS
22  2013 [Influence of ketogenic diet on the clinical effects and electroencephalogram features in 31 children with pharmacoresistant epileptic encephalopathy]. AEDs, IEDs, KD
23  2012 Dissecting the genetic basis of myoclonic-astatic epilepsy. ILAE
24  2012 Myoclonic astatic epilepsy and the use of the ketogenic diet. KD
25  2011 Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. GLUT1
26  2011 Myoclonic astatic epilepsy: an age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution. EEG
27  2011 [Electroclinical features of myoclonic-atonic epilepsy]. AEDs, EEG, EMG, FS, GTCS
28  2009 Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes. BFNC, IE, IGE, RE, SIGEI, SMEI
29  2008 SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus. AGTCS, DNA, PCR
30  2008 [A case of myoclonic astatic epilepsy with autoantibody for glutamate receptor epsilon 2]. GluR epsilon 2
31  2007 Current treatment of myoclonic astatic epilepsy: clinical experience at the Children's Hospital of Philadelphia. AET, KD
32  2006 Levetiracetam in patients with generalised epilepsy and myoclonic seizures: an open label study. BMEI, JME, LEV, LGS, MA, SMEI
33  2006 Neuropsychological findings: myoclonic astatic epilepsy (MAE) and Lennox-Gastaut syndrome (LGS). AED, LGS
34  2006 The natural history of myoclonic astatic epilepsy (Doose syndrome) and Lennox-Gastaut syndrome. ABPE/PLS, LGS
35  2005 SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. GTCS, SIGEI, SMEI
36  2003 Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy. SMEI
37  2003 Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy). ---
38  2003 Topiramate in the treatment of myoclonic-astatic epilepsy in children: a retrospective hospital audit. TPM
39  2002 Different neurophysiologic patterns of myoclonus characterize Lennox-Gastaut syndrome and myoclonic astatic epilepsy. EEG, LGS
40  2002 [Clinical case of the month. Myoclonic-astatic epilepsy in a young child (MAE) or Doose syndrome]. ---
41  2001 Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). SMEI
42  2001 Myoclonic-astatic epilepsy of early childhood--clinical and EEG analysis of myoclonic-astatic seizures, and discussions on the nosology of the syndrome. EEG, ILAE
43  1999 Delineation of cryptogenic Lennox-Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis. MCA
44  1997 Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. ---
45  1992 Myoclonic-astatic epilepsy. ---