Pyridoxine-dependent and pyridoxine-responsive seizures

Baxter, Peter

doi:10.1017/s0012162201000779

Cited by 126 publications

(165 citation statements)

References 38 publications

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“…Baxter has suggested that the trial should be carried out before school entry-that is, around the age of 4 years. 2 All patients reported in this study had relatively early onset of seizures, while the initial presentation of pyridoxine dependent seizures may occur up to the age of 9 months. This may be due to both under-reporting and underrecognition of late onset pyridoxine dependency.…”

Section: Discussionmentioning

confidence: 75%

“…Parents may be reluctant to agree to a trial of pyridoxine withdrawal, because they fear it will cause harm to the child. 2 On the other hand, we believe that in many cases physicians may never consider a trial of withdrawal due to insufficient knowledge of this rare disorder.…”

Section: Discussionmentioning

confidence: 97%

“…The diagnosis is established when convulsions recur after withdrawal of pyridoxine (within days to weeks) and cease again after a second trial of pyridoxine. 2 In general, the patient will be free of seizures after institution of pyridoxine maintenance monotherapy. Atypical forms include those with seizures only partly responsive to pyridoxine, referred to as pyridoxine responsive seizures, and those with late onset of seizures.…”

mentioning

confidence: 99%

“…Atypical forms include those with seizures only partly responsive to pyridoxine, referred to as pyridoxine responsive seizures, and those with late onset of seizures. 2 Few reports have been made of epidemiological data concerning pyridoxine dependency. A regional study in the UK, published in 1996 by Baxter et al, reported a point prevalence of definite cases of 1:100 000.…”

mentioning

confidence: 99%

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Epidemiology of pyridoxine dependent seizures in the Netherlands

Been

Bok²,

Andriessen³

et al. 2005

Archives of Disease in Childhood

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Background: Pyridoxine dependent epilepsy is a rare cause of seizures in childhood. The diagnosis is made on clinical criteria, that in many cases are never met. Therefore, epidemiological data on pyridoxine dependency are scarce. Aims: To study the epidemiology of pyridoxine dependent epilepsy in the Netherlands, and to determine whether the diagnosis is based on the appropriate criteria. Methods: Nationwide all departments of paediatrics (n = 113) and of paediatric or neonatal neurology (n = 17) were asked to report cases of pyridoxine dependent seizures. Birth incidences were calculated using national data on live births from 1991 to 2003. Results: Response was received from 67% of paediatric departments, including all university hospitals and 94% of child neurology departments. Thirteen patients were reported. Four definite (31%), three probable (23%), and four possible cases (31%) were identified. Two cases (15%) did not meet criteria for either of these groups. The birth incidence was 1:396 000 for definite and probable cases and 1:252 000 when possible cases are included. Conclusions: Thus far, epidemiological data on pyridoxine dependent seizures were only available from the UK and Ireland. A higher incidence was found in the Netherlands, in accordance with earlier suggestions of a regional difference. The study shows that the diagnosis is often made without performance of a formal trial of withdrawal. The importance of confirming the diagnosis, concerning the consequences as for individual prognosis, the potential side effects of prolonged pyridoxine substitution, and the possibility of treating the mother in case of future pregnancies are emphasised.

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Section: Discussionmentioning

confidence: 75%

Section: Discussionmentioning

confidence: 97%

mentioning

confidence: 99%

mentioning

confidence: 99%

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Epidemiology of pyridoxine dependent seizures in the Netherlands

Been

Bok²,

Andriessen³

et al. 2005

Archives of Disease in Childhood

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“…[12] There are atypical types of pyridoxine-dependent epilepsies which may first respond to anticonvulsants but relapse later, seizures not controlled by pyridoxine initially but which respond later. [13] The typical clinical seizure phenotype is seizures in the early neonatal period which are recurrent in the form of either generalized tonic–clonic seizures or partial motor seizures, infantile spasms, and recurrent status. There are associated features such as vomiting abdominal distension, irritability, paroxysmal facial grimacing, and eye movement abnormalities clubbed with severe developmental and intellectual delay.…”

Section: Introductionmentioning

confidence: 99%

Pyridoxine-dependent convulsions among children with refractory seizures: A 3-year follow-up study

et al. 2016

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Introduction:Epilepsy accounts for 1% of the global disease burden and about 8–10 million epilepsy patients live in India. About 30–40% of these patients become drug-resistant and land up with palliative or disease-modifying surgeries. This is a situation causing great concern in view of the psychosocial and economic burden on the patient and the family apart from severe cognitive and motor consequences, especially in children. Therefore, it is mandatory to have an insight into the wide spectrum of causes with reference to refractoriness to antiepileptic medications in children with epilepsy.Patients and Methods:Children admitted under our team with refractory epilepsy as per the International League Against Epilepsy (ILAE) criteria in the last 3 years were included in the study.Results:Refractory epilepsy constituted 13.3% of inpatients in the pediatric group. Males dominated with 68.9% of these patients. Nearly 34.4% of these patients were found to suffer from various neurometabolic diseases. Almost 3.5% were due to pyridoxine-dependent convulsions. This group of patients showed an excellent response to dietary manipulation, disease-modifying treatment for the metabolic disorder, and supportive small-dose anticonvulsants. During follow-up, they showed very good response with reference to global development and seizure control.Conclusion:Pyridoxine-dependent convulsions are relatively rare forming about 3.5% of refractory epilepsies in this series. With initiation of appropriate therapy, results with reference to seizure control as well as neurodevelopment became evident within 2 weeks, and at 1-year follow-up, complete independence for majority of the needed activities is achieved with minimum cost, almost zero side effects, and absolute elimination of the need for palliative surgery.

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Glial localization of antiquitin: Implications for pyridoxine‐dependent epilepsy

Jansen

Hevner

Roden³

et al. 2014

Annals of Neurology

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Objective A high incidence of structural brain abnormalities has been reported in individuals with pyridoxine-dependent epilepsy (PDE). PDE is caused by mutations in ALDH7A1, also known as antiquitin. How antiquitin dysfunction leads to cerebral dysgenesis is unknown. In this study, we analyzed tissue from a child with PDE as well as control human and murine brain to determine the normal distribution of antiquitin, its distribution in PDE, and associated brain malformations. Methods Formalin-fixed human brain sections were subjected to histopathology and fluorescence immunohistochemistry studies. Frozen brain tissue was utilized for measurement of PDE-associated metabolites and Western blot analysis. Comparative studies of antiquitin distribution were performed in developing mouse brain sections. Results Histologic analysis of PDE cortex revealed areas of abnormal radial neuronal organization consistent with type Ia focal cortical dysplasia. Heterotopic neurons were identified in subcortical white matter, as was cortical astrogliosis, hippocampal sclerosis, and status marmoratus of the basal ganglia. Highly elevated levels of lysine metabolites were present in postmortem PDE cortex. In control human and developing mouse brain, antiquitin immunofluorescence was identified in radial glia, mature astrocytes, ependyma, and choroid plexus epithelium, but not in neurons. In PDE cortex, antiquitin immunofluorescence was greatly attenuated with evidence of perinuclear accumulation in astrocytes. Interpretation Antiquitin is expressed within glial cells in the brain, and its dysfunction in PDE is associated with neuronal migration abnormalities and other structural brain defects. These malformations persist despite postnatal pyridoxine supplementation and likely contribute to neurodevelopmental impairments.

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Pyridoxine-dependent and pyridoxine-responsive seizures

Cited by 126 publications

References 38 publications

Epidemiology of pyridoxine dependent seizures in the Netherlands

Epidemiology of pyridoxine dependent seizures in the Netherlands

Pyridoxine-dependent convulsions among children with refractory seizures: A 3-year follow-up study

Glial localization of antiquitin: Implications for pyridoxine‐dependent epilepsy

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