ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response. (February 2020)

• Record Type: Journal Article
• Authors: Gasser, Marius; Boonsimma, Ponghatai; Netbaramee, Wiracha; Wechapinan, Thanin; Srichomthomg, Chalurmpon; Ittiwut, Chupong; Krenn, Martin; Zimprich, Fritz; Milenkovic, Ivan; Abicht, Angela; Biskup, Saskia; Roser, Timo; Shotelersuk, Vorasuk; Tacke, Moritz; Kuersten, Marianne; Wagner, Matias; Borggraefe, Ingo; Suphapeetiporn, Kanya; von Stülpnagel, Celina
• Is Part Of: Journal of clinical neuroscience. Volume 72(2020)
• Page Start: 31
• Page End: 38
• Publication Date: 2020-02
• Subjects: ATP1A3 -- AED -- Case report -- Epilepsy -- Review -- Treatment; AHC alternating hemiplegia of childhood -- AED anti-epileptic drug -- AZA acetazolamide -- BTX botulinum toxin -- CAPOS cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss, CBZ, carbamazepine -- CLB clobazam -- CZP clonazepam -- d days -- DZP diazepam -- EEG electroencephalography -- EOEE early onset epileptic encephalopathy -- FLU flunarizine -- GTCS generalized tonic clonic seizure -- hrs hours -- IED interictal epileptic discharge -- Int. Dis. intellectual disability -- KD ketogenic diet -- LEV levetiracetam -- LTG lamotrigine -- LZP lorazepam -- mos. months -- MAF minor allele frequency -- MDZ midazolam -- MRI magnetic resonance imaging -- MTS mesial temporal sclerosis -- NCSE nonconvulsive status epilepticus -- NGS next generation sequencing -- OXC oxcarbazepine -- PB phenobarbital -- PHT phenytoin -- PRO propranolol -- RDP rapid-onset dystonia parkinsonism -- SE status epilepticus -- STM sulthiame -- TPM topiramate -- VNS vagus nerve stimulation -- VPA valproic acid -- wks. weeks -- yr. years; Brain -- Surgery -- Periodicals; Neurosciences -- Periodicals; Nervous system -- Surgery -- Periodicals; Brain -- surgery -- Periodicals; Neurosurgical Procedures -- Periodicals; Neurosciences -- Periodicals; Electronic journals; 616.8
• DOI: 10.1016/j.jocn.2020.01.041
• Languages: English
• ISSNs: 0967-5868

Abstract

Highlights: ATP1A3 gene is related to difficult-to-treat epilepsy. Information on anti-epileptic drug (AED) treatment is rare. Most used AEDs: levetiracetam, phenobarbital, valproic acid and topiramate. No most effective AED; and 45% of patients did not show any seizure relief. Median onset of symptoms was 2 months of age. Abstract: ATP1A3 related disease is a clinically heterogeneous condition currently classified as alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. Recently, it has become apparent that a remarkably large subgroup is suffering from often difficult-to-treat epilepsy. The aim of the present study was to assess the prevalence and efficacy of commonly used anti-epileptic-drugs (AEDs) in patients with ATP1A3 r elated seizures. Therefore, we performed a retrospective study of patients in combination with a systematic literature-based review. Inclusion criteria were: verified ATP1A3 mutation, seizures and information about AED treatment. The literature review yielded records for 188 epileptic ATP1A3 patients. For 14/188 cases, information about anti-epileptic treatment was available. Combined with seven unpublished records of ATP1A 3 patients, a sample size of 21 patients was reached. Most used AED were levetiracetam (n = 9), phenobarbital (n = 8), valproic acid (n = 7), and topiramate (n = 5). Seizure reduction was reported for 57% of patients (n = 12). No individual AEDs used (either alone or combined) had a success rate over 50%. There was no significant difference in the response rate between various AEDs. Ketogenic diet was effective in 2/4 patients. 43% of patients (n = 9) did not show any seizure relief. Even though Epilepsy is a significant clinical issue in ATP1A3 patients, only a minority of publications provide any information about patients' anti-epileptic treatment. The findings of treatment effectiveness in only 57% (or lower) of patients, and the non-existence of a clear first-line AED in ATP1A3 related epilepsy stresses the need for further research.