Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype

Roshal, David; Glosser, David S.; Zangaladze, Andro

doi:10.1016/j.yebeh.2011.03.003

Cited by 11 publications

(8 citation statements)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The initial search from combined databases returned 228 articles (PubMed = 118 and Embase = 110). A total of 48, including 195 cases, met the inclusion criteria and were used for further evaluation [ 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 ].…”

Section: Resultsmentioning

confidence: 99%

“…In the majority of reported patients (68.7%), the use of valproate was associated with liver problems/dysfunction, ranging from abnormal liver enzymes and liver enlargement (76.2%) to severe acute hepatic failure (39.7%). Hepatic failure might lead to liver transplantation or provoke fatal events within weeks/months after valproate treatment and might persist also after drug withdrawal in some patients [ 12 , 13 , 14 , 15 , 16 , 17 , 18 , 21 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 43 , 61 , 62 ]. Reported treatments also included immune therapy (IVIG and steroids) and ketogenic diet ( Supplementary Materials Table S3 ).…”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings

et al. 2020

View full text Add to dashboard Cite

Background: The clinical spectrum associated with POLG1 gene mutations ranges from non-syndromic epilepsy or mild isolated neurological signs to neurodegenerative disorders. Our aim was to review diagnostic findings, therapeutic approaches and outcomes of reported cases of epilepsy related to POLG1 mutation. Methods: The articles for review were identified through a systematic research on PubMed and EMBASE databases from January 2003 to April 2020, searching for the terms “Epilepsy AND POLG OR polymerase gamma,” OR “POLG1”. Results: Forty-eight articles were selected for review, which included 195 patients. Two main peaks of age at epilepsy onset were found: at ages 1 and 13 years. The most frequent seizure type was myoclonic. The occurrence of Status Epilepticus was reported in 46.4% of cases. Epileptiform and slow abnormalities were most frequently seen over occipital regions. Brain Magnetic Resonance Imaging (MRI) revealed increased T2 signal intensities in thalamic regions. Genetic analysis revealed a prevalence of A467T, W748S and G848S (74.2% of patients) mutations. Survival at 5 years was estimated at very low levels (30.2% of patients). Conclusion: In this review, we included cases with both pediatric and adult epilepsy onset. The analysis of data regarding prognosis showed that survival is related to age at onset of epilepsy.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings

et al. 2020

View full text Add to dashboard Cite

show abstract

“…Patients with these mutations display ataxia syndrome, which is a progressive neurological disorder characterized by FE as a primary feature (41). Some compound heterozygotes have been reported among these patients, who harbor both A467T and T748S mutations in POLG (42,43). One patient, heterozygote for T748S only, also showed a similar neurological phenotype with epilepsy (42).…”

Section: Discussionmentioning

confidence: 99%

Naturally Occurring Carboxypeptidase A6 Mutations

Sapio

Salzmann

Vessaz

et al. 2012

Journal of Biological Chemistry

View full text Add to dashboard Cite

Background: Two mutations in the carboxypeptidase A6 (CPA6) gene were previously found in epilepsy patients. Results: Many additional CPA6 mutations were found. Some inactivated CPA6 and were more frequently found in epilepsy patients than controls. Conclusion: Several CPA6 mutations greatly reduce enzyme activity, but the most frequently found mutations do not. Significance: Mutations in CPA6 are associated with rare cases of epilepsy.

show abstract

“…In patient seven, the occipital FLAIR hyperintense lesion on MRI also disappeared after control of status epilepticus. It has previously been described that abnormal brain MRI findings may disappear on repeated MRI scanning [22,23]. Patient 6 developed a mild hyperintensity in the left occipital lobe, associated with sporadic occipital lobe seizures but never SE.…”

Section: Mri Featuresmentioning

confidence: 89%

The spectrum of epilepsy caused by POLG mutations

et al. 2015

View full text Add to dashboard Cite

Mutations in POLG are increasingly recognized as a cause of refractory occipital lobe epilepsy (OLE) and status epilepticus (SE). Our aim was to describe the epilepsy syndrome in seven patients with POLG mutations. We retrospectively reviewed the medical records of seven patients with POLG mutations and epilepsy. Mutation analysis was performed by direct sequencing of the coding exons of the POLG gene. Disease onset was at a median age of 18 years (range 12-26). Epilepsy was the presenting problem in six patients. All had focal seizures, with motor (n = 6) and visual (n = 6) phenomena. Six patients had secondarily generalized seizures and two patients had myoclonic seizures. Six patients had one or more episodes of refractory SE, including focal (n = 5), subtle (n = 4), myoclonic (n = 2) and convulsive (n = 3) SE. During or after SE, brain MRI showed lesions affecting the occipital lobe in all patients, probably due to continuous epileptic activity. Five of the six patients with SE died during treatment of SE, one due to valproate-induced hepatotoxicity. Associated clinical symptoms were ataxia (n = 6), polyneuropathy (n = 6), progressive external ophthalmoplegia (PEO) (n = 3) and migraine (n = 3). Epilepsy may be the first and dominant neurological problem caused by POLG mutations. The epilepsy may be severe and the condition of the patient may end in fatal SE. Refractory OLE and SE in a patient with polyneuropathy, ataxia, PEO or migraine warrant screening for POLG mutations. In this clinical setting, valproate should not be given in view of the risk of fatal hepatotoxicity.

show abstract

Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype

Cited by 11 publications

References 11 publications

POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings

POLG1-Related Epilepsy: Review of Diagnostic and Therapeutic Findings

Naturally Occurring Carboxypeptidase A6 Mutations

The spectrum of epilepsy caused by POLG mutations

Contact Info

Product

Resources

About