Disease relevance of Myoclonic Epilepsy, Juvenile

• Idiopathic generalized epilepsies, i.e., juvenile myoclonic epilepsy (JME), childhood absence epilepsy, and epilepsy with grand mal [generalized tonic-clonic seizures (GTCS)], are the most common genetic epilepsies [1].
• A total of 21 patients with juvenile myoclonic epilepsy (JME) and 21 with temporal lobe epilepsy (TLE) were included; 18 patients were treated with carbamazepine (CBZ), 16 with valproate (VPA) and seven with phenytoin (PHT) [2].
• We report one subject with childhood absence epilepsy (CAE) that evolved to juvenile myoclonic epilepsy (JME) that has a unique de novo mutation that results in a non-conservative amino acid change at a potential protein glycosylation site [3].

High impact information on Myoclonic Epilepsy, Juvenile

• Juvenile myoclonic epilepsy (JME) is a common form of generalized epilepsy that starts in adolescence [4].
• Chloride and calcium channel mutations are found in rare families with the common syndromes childhood absence epilepsy and juvenile myoclonic epilepsy (JME) [5].
• Twenty-six adults (eight men) taking valproate or lamotrigine were recruited; 12 had complex partial seizures (CPS) and 14 had juvenile myoclonic epilepsy (JME) [6].
• We reviewed the charts of 84 patients with juvenile myoclonic epilepsy (JME) whom we had followed over the past 12 years, and identified 51 treated with acetazolamide (AZM) either because of a poor response to conventional antiepileptic drugs or to avoid valproate-associated adverse effects [7].
• We studied the efficacy of clonazepam (CZP) in control of juvenile myoclonic epilepsy (JME) in 17 patients [8].

Chemical compound and disease context of Myoclonic Epilepsy, Juvenile

• Chloride and calcium channel mutations are found in rare families with the common syndromes childhood absence epilepsy and juvenile myoclonic epilepsy (JME) [9].
• Fourteen patients with juvenile myoclonic epilepsy (JME) were treated with a single low dose of a sustained-release preparation of sodium valproate (VPA, 500 mg daily) [10].

Biological context of Myoclonic Epilepsy, Juvenile

• Evidence for a locus (EJM1) in the HLA region of chromosome 6p predisposing to idiopathic generalized epilepsy (IGE) in the families of patients with juvenile myoclonic epilepsy (JME) has been obtained in two previous studies of separately ascertained groups of kindreds [11].
• We analysed somatosensory evoked potentials (SEPs) in the patients with juvenile myoclonic epilepsy (JME) in order to find out if sodium valproate (VPA) affects SEP latencies and amplitudes [12].

Gene context of Myoclonic Epilepsy, Juvenile

• We therefore performed a mutation analysis of KCNJ6 and the related KCNJ3 gene in 38 patients with juvenile myoclonic epilepsy (JME) [13].
• The EFHC1 gene on 6p12-p11 was previously described as the first susceptibility gene for juvenile myoclonic epilepsy (JME) [14].
• The gene encoding SSADH (gene symbol: ALDH5A1) maps in proximity to susceptibility loci for juvenile myoclonic epilepsy (JME) and photosensitivity on chromosome 6p22 [15].
• In the present study, we examined the possible role of CHRNA4 in common subtypes of idiopathic generalized epilepsy (IGE), comprising childhood and juvenile absence epilepsy and juvenile myoclonic epilepsy (JME), by systematically screening the coding region of the gene for sequence variants [16].
• An Ala322Asp mutation in the GABRA1 gene was recently reported to be responsible for causing the autosomal dominant (AD) form of juvenile myoclonic epilepsy (JME) in a French-Canadian family [17].

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