Acetazolamide for electrical status epilepticus in slow‐wave sleep

Fine, Anthony L.; Wirrell, Elaine; Wong‐Kisiel, Lily C.; Nickels, Katherine C.

doi:10.1111/epi.13101

Cited by 24 publications

(11 citation statements)

References 15 publications

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“…33,34 In addition, the predisposition to osteopenia in PMM2-CDG patients under the effect of a sustained mild plasma acidosis and increased bone resorption should also be studied. Importantly, changes in pH and bicarbonate, together with renal tubular acidosis, need to be closely monitored, particularly at the beginning of therapy, as they may limit AZA titration and the final dose.…”

Section: Discussionmentioning

confidence: 99%

“…However, studies evaluating long-term effectiveness and side effects of AZA in the treatment of refractory epilepsies have not shown renal calculi formation or any other serious side effects after periods of treatment of up to 14 years using a similar daily dose of AZA. 33,34 In addition, the predisposition to osteopenia in PMM2-CDG patients under the effect of a sustained mild plasma acidosis and increased bone resorption should also be studied.…”

Section: Discussionmentioning

confidence: 99%

“…Long‐term effects of AZA on kidney function and lithiasis formation should be addressed in long‐term studies, as AZA increases calcium in urine and lowers citrate excretion, a potent inhibitor of calcium stone formation. However, studies evaluating long‐term effectiveness and side effects of AZA in the treatment of refractory epilepsies have not shown renal calculi formation or any other serious side effects after periods of treatment of up to 14 years using a similar daily dose of AZA . In addition, the predisposition to osteopenia in PMM2‐CDG patients under the effect of a sustained mild plasma acidosis and increased bone resorption should also be studied.…”

Section: Discussionmentioning

confidence: 99%

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AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

Martinez‐Monseny¹,

Bolasell²,

Callejón‐Póo³

et al. 2019

Annals of Neurology

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Objective: Phosphomannomutase deficiency (PMM2 congenital disorder of glycosylation [PMM2-CDG]) causes cerebellar syndrome and strokelike episodes (SLEs). SLEs are also described in patients with gain-of-function mutations in the CaV2.1 channel, for which acetazolamide therapy is suggested. Impairment in N-glycosylation of CaV2.1 promotes gain-of-function effects and may participate in cerebellar syndrome in PMM2-CDG. AZATAX was designed to establish whether acetazolamide is safe and improves cerebellar syndrome in PMM2-CDG. Methods: A clinical trial included PMM2-CDG patients, with a 6-month first-phase single acetazolamide therapy group, followed by a randomized 5-week withdrawal phase. Safety was assessed. The primary outcome measure was improvement in the International Cooperative Ataxia Rating Scale (ICARS). Other measures were the Nijmegen Pediatric CDG Rating Scale (NPCRS), a syllable repetition test (PATA test), and cognitive scores. Results: Twenty-four patients (mean age = 12.3 AE 4.5 years) were included, showing no serious adverse events. Thirteen patients required dose adjustment due to low bicarbonate or asthenia. There were improvements on ICARS (34.9 AE 23.2 vs 40.7 AE 24.8, effect size = 1.48, 95% confidence interval [CI] = 4.0-7.6, p < 0.001), detected at 6 weeks in 18 patients among the 20 responders, on NPCRS (95% CI = 0.3-1.6, p = 0.013) and on the PATA test (95% CI = 0.5-3.0, p = 0.006). Acetazolamide improved prothrombin time, factor X, and antithrombin. Clinical severity, epilepsy, and lipodystrophy predicted greater response. The randomized withdrawal phase showed ICARS worsening in the withdrawal group (effect size = 1.46, 95% CI = 2.65-7.52, p = 0.001). Interpretation: AZATAX is the first clinical trial of PMM2-CDG. Acetazolamide is well tolerated and effective for motor cerebellar syndrome. Its ability to prevent SLEs and its long-term effects on kidney function should be addressed in future studies. ANN NEUROL 2019;85:740-751 View this article online at wileyonlinelibrary.com.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

Martinez‐Monseny¹,

Bolasell²,

Callejón‐Póo³

et al. 2019

Annals of Neurology

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“…Recently, one study reported a very significant effect of topiramate; 16 of 21 patients showed clinical and behavioural improvement at three months, with long lasting effect in 10 (Vrielynck et al, 2017). Acetazolamide was reported to yield subjective clinical improvement in 5 of 6 children in whom up to 12 previous treatments had failed, when studied retrospectively (Fine et al, 2015). Amantidine, although not considered to have anticonvulsive effects, became of interest because of the identified GRIN2A variant in patients with ESES which has recently been reported in a series of 20 patients with ESES.…”

Section: Antiepileptic Drugsmentioning

confidence: 99%

Current treatment options for Encephalopathy related to Status Epilepticus during slow Sleep

Jansen¹,

Nikanorova

Peltola

2019

Epileptic Disorders

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The major goal of therapy in patients with Encephalopathy related to Status Epilepticus during slow Sleep (ESES) is to prevent or reduce associated cognitive deficits. Whether or not the EEG pattern of ESES should be completely suppressed to improve cognition is unknown. In clinical practice, there are two major challenges: to establish the optimal treatment strategy in patients with ESES, and to identify the patients who will benefit most from therapy, including atypical cases. Here, we provide a comprehensive overview of the current literature on treatment efficacy in patients with ESES.

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“…However, neuropsychological functions slightly improved in only 25% of patients 32. • Acetazolamide: In a retrospective study of six children with LKS and ESES syndrome, treatment with acetazolamide was associated with complete resolution of ESES and improvement in clinical seizures in three of them 33. • Steroids: Prednisone, methylprednisolone, and ACTH were used in ESES and demonstrated efficacy improving the outcome.…”

mentioning

confidence: 99%

Treatment of Atypical Evolutions of Idiopathic Focal Epilepsies in Childhood

2016

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The relationship between continuous spike-and-wave discharges during slow sleep (CSWSS) and neuropsychological impairment (cognitive functions, memory consolidation, and language and behavior disturbances) has been clearly demonstrated. These phenomena occur not only in symptomatic cases of CSWSS or electrical status epilepticus in sleep (ESES) syndrome, but also in the different conditions that constitute the spectrum of atypical evolutions of idiopathic focal epilepsies of childhood (IFEC). In spite of continuous advances in treatment, management is still difficult and challenging. Treatment options of atypical evolutions of IFEC include benzodiazepines, sulthiame, levetiracetam, valproic acid, and ethosuximide. Other drugs such as lacosamide and acetazolamide have been proposed. Usual antiepileptic drugs such as carbamazepine, phenobarbital, phenytoin, oxcarbazepine, lamotrigine, and topiramate were proven to be capable of inducing ESES. Steroids and intravenous immunoglobulins were recommended in refractory cases. Surgery, ketogenic diet, and vagal nerve stimulation were also used in some cases. Our interest regarding a scheme of treatment in atypical evolutions of IFEC is centered on two questions: (1) Is it possible to prevent the evolution of IFEC into atypical focal epilepsies of childhood, status epilepticus of IFEC, Landau–Kleffner's syndrome, or ESES syndrome? (2) Which is the treatment of choice once one of these conditions is installed?

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Acetazolamide for electrical status epilepticus in slow‐wave sleep

Cited by 24 publications

References 15 publications

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

AZATAX: Acetazolamide safety and efficacy in cerebellar syndrome in PMM2 congenital disorder of glycosylation (PMM2‐CDG)

Current treatment options for Encephalopathy related to Status Epilepticus during slow Sleep

Treatment of Atypical Evolutions of Idiopathic Focal Epilepsies in Childhood

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