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  1. Article ; Online: Sex Differences in Adverse Effects of Antiseizure Medications in Adults with Epilepsy: A Systematic Review.

    Giuliano, Loretta / Durante, Vania / Battaglia, Giulia / Gasparini, Sara / Zambrelli, Elena / Ermio, Caterina / La Neve, Angela / Mostacci, Barbara

    CNS drugs

    2024  

    Abstract: Background: Sex differences in epilepsy have been described in prevalence, seizure propensity and response to treatment. Therefore, taking into account sex-based differences in epilepsy is important for both diagnostic purposes and therapeutic ... ...

    Abstract Background: Sex differences in epilepsy have been described in prevalence, seizure propensity and response to treatment. Therefore, taking into account sex-based differences in epilepsy is important for both diagnostic purposes and therapeutic considerations. However, little is known about sex differences in adverse effects of antiseizure medications (ASMs).
    Objectives: We performed a systematic review searching for sex differences in adverse effects of ASMs in adult persons with epilepsy (PWE) as part of a wider project aimed to assess sex-based differences in efficacy and adverse effects of ASMs in PWE.
    Methods: We conducted a comprehensive literature search in the PubMed database. The search was conducted with no restriction on publication date, and all results up to April 2020 were included. We included articles written in English, Italian, Spanish, or French that evaluated adverse effects of one or more ASMs in PWE, with specific mention of the two sexes. When appropriate, Newcastle-Ottawa or Jadad scales were used to assess study quality.
    Results: Of 5164 identified studies, only 167 considered sex in the analysis and were therefore included. Significant sex-related differences were found in 58 of those studies. We found a consistently higher frequency of cutaneous adverse effects in females; higher risk of developing general adverse effects on different ASMs in females; stronger risk of adverse effects on bone metabolism in females, mainly on treatment with enzyme-inducing ASMs; a concordant higher risk of visual field loss was noted in males on vigabatrin; an overall worse lipid profile in males; as well as higher leptin levels and higher body mass index in females treated with various ASMs.
    Conclusions: Our analysis has identified some important sex differences in the adverse effects of ASMs. Clinicians should be aware of these differences when informing patients about the risks associated with ASM treatment in PWE.
    Language English
    Publishing date 2024-04-30
    Publishing country New Zealand
    Document type Systematic Review
    ZDB-ID 1203800-3
    ISSN 1179-1934 ; 1172-7047
    ISSN (online) 1179-1934
    ISSN 1172-7047
    DOI 10.1007/s40263-024-01088-x
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    Zs.A 4083: Show issues Location:
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  2. Article ; Online: Impact of regulatory restrictions on the use of valproic acid in women of childbearing age: An Italian study.

    Di Vito, Lidia / Mazzoni, Stefania / Belotti, Laura Maria Beatrice / Poluzzi, Elisabetta / Baldin, Elisa / Zenesini, Corrado / Bisulli, Francesca / Tinuper, Paolo / Mostacci, Barbara

    Epilepsia

    2023  Volume 64, Issue 4, Page(s) 910–918

    Abstract: Objective: Due to significant risks to the offspring after intrauterine exposure, the European Medicines Agency issued recommendations in 2014 and 2018 restricting the use of valproate (VPA) in women of childbearing age (WOCA). We aimed to evaluate ... ...

    Abstract Objective: Due to significant risks to the offspring after intrauterine exposure, the European Medicines Agency issued recommendations in 2014 and 2018 restricting the use of valproate (VPA) in women of childbearing age (WOCA). We aimed to evaluate their impact in the Emilia-Romagna region (ERR) of Northern Italy.
    Methods: Using administrative databases, we identified all the ERR residents who received antiseizure medication (ASM) prescriptions from 2010 to 2020. Time series of incidence rates by sex and age group were evaluated for all ASMs. Focusing on VPA, an interrupted time series analysis was applied to assess the impact of the restrictions in WOCA with epilepsy (WOCA-E) and WOCA with psychiatric disorders (WOCA-P). We then evaluated the chronological order of ASM prescriptions with regard to the position of VPA.
    Results: Incidence rates of VPA prescriptions overall decreased over time. A significant decrease was observed only for females. The effect was stronger for WOCA, after both the first (incidence rate ratio [IRR] = .85, 95% confidence interval [CI] = .75-.96) and the second restriction (IRR = .67, 95% CI = .55-.82). The decrease was significant after the second restriction both for WOCA-E (IRR = .43, 95% CI = .27-.68) and for WOCA-P (IRR = .49, 95% CI = .35-.70), as well as VPA as a first prescription in both populations. VPA prescriptions as further choice did not show the same trend.
    Significance: After the regulatory restrictions, an overall significant decline in the use of VPA in WOCA was observed in ERR. The second restriction has been effective in consolidating the prescription trend. However, VPA appears still to be a commonly used drug in WOCA when other ASMs have failed.
    MeSH term(s) Humans ; Female ; Valproic Acid/therapeutic use ; Anticonvulsants/therapeutic use ; Epilepsy/drug therapy ; Epilepsy/epidemiology ; Drug Prescriptions ; Italy/epidemiology
    Chemical Substances Valproic Acid (614OI1Z5WI) ; Anticonvulsants
    Language English
    Publishing date 2023-02-20
    Publishing country United States
    Document type Journal Article
    ZDB-ID 216382-2
    ISSN 1528-1167 ; 0013-9580
    ISSN (online) 1528-1167
    ISSN 0013-9580
    DOI 10.1111/epi.17526
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  3. Article ; Online: Sudden unexpected death in epilepsy: A critical view of the literature.

    Giussani, Giorgia / Falcicchio, Giovanni / La Neve, Angela / Costagliola, Giorgio / Striano, Pasquale / Scarabello, Anna / Mostacci, Barbara / Beghi, Ettore

    Epilepsia open

    2023  Volume 8, Issue 3, Page(s) 728–757

    Abstract: Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding ... ...

    Abstract Sudden unexpected death in epilepsy (SUDEP) is a sudden, unexpected, witnessed or unwitnessed, non-traumatic and non-drowning death, occurring in benign circumstances, in an individual with epilepsy, with or without evidence for a seizure and excluding documented status epilepticus in which postmortem examination does not reveal other causes of death. Lower diagnostic levels are assigned when cases met most or all of these criteria, but data suggested more than one possible cause of death. The incidence of SUDEP ranged from 0.09 to 2.4 per 1000 person-years. Differences can be attributed to the age of the study populations (with peaks in the 20-40-year age group) and the severity of the disease. Young age, disease severity (in particular, a history of generalized TCS), having symptomatic epilepsy, and the response to antiseizure medications (ASMs) are possible independent predictors of SUDEP. The pathophysiological mechanisms are not fully known due to the limited data available and because SUDEP is not always witnessed and has been electrophysiologically monitored only in a few cases with simultaneous assessment of respiratory, cardiac, and brain activity. The pathophysiological basis of SUDEP may vary according to different circumstances that make that particular seizure, in that specific moment and in that patient, a fatal event. The main hypothesized mechanisms, which could contribute to a cascade of events, are cardiac dysfunction (included potential effects of ASMs, genetically determined channelopathies, acquired heart diseases), respiratory dysfunction (included postictal arousal deficit for the respiratory mechanism, acquired respiratory diseases), neuromodulator dysfunction, postictal EEG depression and genetic factors.
    MeSH term(s) Humans ; Sudden Unexpected Death in Epilepsy ; Death, Sudden/etiology ; Death, Sudden/epidemiology ; Epilepsy/complications ; Epilepsy/drug therapy ; Seizures ; Status Epilepticus ; Heart Diseases/complications
    Language English
    Publishing date 2023-05-17
    Publishing country United States
    Document type Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ISSN 2470-9239
    ISSN (online) 2470-9239
    DOI 10.1002/epi4.12722
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  4. Article ; Online: Tuberous sclerosis complex in adulthood: focus on epilepsy prognosis.

    Licchetta, Laura / Bruschi, Giulia / Stipa, Carlotta / Belotti, Laura Maria Beatrice / Ferri, Lorenzo / Mostacci, Barbara / Vignatelli, Luca / Minardi, Raffaella / Di Vito, Lidia / Muccioli, Lorenzo / Boni, Antonella / Tinuper, Paolo / Bisulli, Francesca

    Epilepsy & behavior : E&B

    2024  Volume 153, Page(s) 109688

    Abstract: Objective: Typically diagnosed in early childhood or adolescence, TSC is a chronic, multisystemic disorder with age-dependent manifestations posing a challenge for transition and for specific surveillance throughout the lifetime. Data on the clinical ... ...

    Abstract Objective: Typically diagnosed in early childhood or adolescence, TSC is a chronic, multisystemic disorder with age-dependent manifestations posing a challenge for transition and for specific surveillance throughout the lifetime. Data on the clinical features and severity of TSC in adults and on the prognosis of epilepsy are scarce. We analyzed the clinical and genetic features of a cohort of adult patients with TSC, to identify the prognostic predictors of seizure remission after a long follow-up.
    Method: We conducted a retrospective analysis of patients diagnosed with TSC according to the updated international diagnostic criteria. Pearson's chi-square or Fisher's exact test and Mann Whitney U test were used to compare variables among the Remission (R) and Non-Remission (NR) group. Univariate and multivariate logistic regression analyses were performed.
    Results: We selected 43 patients with TSC and neurological involvement in terms of epilepsy and/or brain lesions, attending the Epilepsy Center of our Institute: of them, 16 (37.2%) were transitioning from the pediatric care and 6 (13.9%) were referred by other specialists. Multiorgan involvement includes cutaneous (86.0%), nephrological (70.7%), hepatic (40.0%), ocular (34.3%), pneumological (28.6%) and cardiac (26.3%) manifestations. Thirty-nine patients (90.7 %) had epilepsy. The mean age at seizure onset was 4 ± 7.3 years: most patients (29, 76.3 %) presented with focal seizures or spasms by age 3 years; only 2 (5.3 %) had seizure onset in adulthood. Twenty-seven patients (69.2 %) experienced multiple seizure types overtime, 23 (59.0 %) had intellectual disability (ID). At last assessment, 14 (35.9 %) were seizure free (R group) and 25 (64.1 %) had drug-resistant seizures (NR group). At logistic regression univariate analysis, ID (OR 7.9, 95 % CI 1.8--34.7), multiple seizure types lifelong (OR 13.2, 95 % CI 2.6- 67.2), spasms/tonic seizures at presentation (OR 6.5, 95 % CI 1.2--35.2), a higher seizure frequency at onset (OR 5.4, 95 % CI 1.2--24.3), abnormal neurological examination (OR 9.8, 95 % CI 1.1--90.6) and pathogenic variants in TSC2 (OR 5.4, 95 % CI 1.2--24.5) were significantly associated with non-remission. In the multivariate analysis, both ID and multiple seizure types lifelong were confirmed as independent predictors of poor seizure outcome.
    Conclusions: In our cohort of adult patients with TSC, epilepsy remains one of the main neurological challenges with only 5.3% of cases manifesting in adulthood. Approximately 64% of these patients failed to achieve seizure remission. ID and multiple seizure types were the main predictors of poor outcome. Nephrological manifestations require continuous specific follow-up in adults.
    MeSH term(s) Child ; Adult ; Adolescent ; Humans ; Child, Preschool ; Anticonvulsants/therapeutic use ; Tuberous Sclerosis/complications ; Tuberous Sclerosis/genetics ; Tuberous Sclerosis/drug therapy ; Retrospective Studies ; Epilepsy/etiology ; Epilepsy/complications ; Seizures/drug therapy ; Prognosis ; Spasm
    Chemical Substances Anticonvulsants
    Language English
    Publishing date 2024-02-29
    Publishing country United States
    Document type Journal Article
    ZDB-ID 2010587-3
    ISSN 1525-5069 ; 1525-5050
    ISSN (online) 1525-5069
    ISSN 1525-5050
    DOI 10.1016/j.yebeh.2024.109688
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    Zs.A 5289: Show issues Location:
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  5. Article ; Online: Fingerprick volumetric absorptive microsampling for therapeutic drug monitoring of antiseizure medications: Reliability and real-life feasibility in epilepsy patients.

    Cancellerini, Chiara / Belotti, Laura Maria Beatrice / Mohamed, Susan / Solda', Martina / Esposito, Erika / Bisulli, Francesca / Mostacci, Barbara / Vignatelli, Luca / Tinuper, Paolo / Contin, Manuela / Licchetta, Laura

    Journal of pharmaceutical and biomedical analysis

    2024  Volume 242, Page(s) 116065

    Abstract: Volumetric absorptive microsampling (VAMS) is increasingly proposed as a clinically reliable therapeutic drug monitoring (TDM) sampling methodology. The study aimed to establish the reliability and real-life feasibility of patient self-collected ... ...

    Abstract Volumetric absorptive microsampling (VAMS) is increasingly proposed as a clinically reliable therapeutic drug monitoring (TDM) sampling methodology. The study aimed to establish the reliability and real-life feasibility of patient self-collected capillary VAMS for TDM of antiseizure medication (ASMs), using plasma ASMs concentrations from venous blood as a reference standard. Nurses collected venous and capillary blood samples using VAMS. Afterward, persons with epilepsy (PWE) performed VAMS sampling by themselves. All samples were analyzed by UHPLC-MS/MS. We performed a cross-validation study, comparing ASMs concentrations obtained by VAMS nurses and patients' self-collected versus plasma through Bland-Altman analysis and Passing-Bablok regression. We enrolled 301 PWE (M: F 42.5%:57.5%; mean age 44±16 years), treated with 13 ASMs, providing a total of 464 measurements. Statistical analysis comparing VAMS self-collected versus plasma ASMs concentrations showed a bias close to zero and slope and intercept values indicating a good agreement for CBZ, LCS, LEV, LTG, OXC, PB, and PHT, while a systematic difference between the two methods was found for VPA, PMP, TPM and ZNS. This is the first study showing the reliability and feasibility of the real-world application of PWE self-collected VAMS for most of the ASMs considered, giving a promising basis for at-home VAMS applications.
    MeSH term(s) Humans ; Adult ; Middle Aged ; Tandem Mass Spectrometry/methods ; Drug Monitoring/methods ; Reproducibility of Results ; Feasibility Studies ; Blood Specimen Collection/methods ; Dried Blood Spot Testing/methods ; Epilepsy/drug therapy
    Language English
    Publishing date 2024-02-21
    Publishing country England
    Document type Journal Article
    ZDB-ID 604917-5
    ISSN 1873-264X ; 0731-7085
    ISSN (online) 1873-264X
    ISSN 0731-7085
    DOI 10.1016/j.jpba.2024.116065
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  6. Article: Ictal Bradycardia and Asystole in Sleep-Related Hypermotor Epilepsy: A Study of 200 Patients.

    Muccioli, Lorenzo / Bruschi, Giulia / Ferri, Lorenzo / Scarabello, Anna / Taruffi, Lisa / Di Vito, Lidia / Mostacci, Barbara / Provini, Federica / Calandra-Buonaura, Giovanna / Tinuper, Paolo / Licchetta, Laura / Bisulli, Francesca

    Journal of clinical medicine

    2024  Volume 13, Issue 6

    Abstract: ... ...

    Abstract Background
    Language English
    Publishing date 2024-03-19
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm13061767
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  7. Article: Epilepsy With Auditory Features: From Etiology to Treatment.

    Furia, Alessandro / Licchetta, Laura / Muccioli, Lorenzo / Ferri, Lorenzo / Mostacci, Barbara / Mazzoni, Stefania / Menghi, Veronica / Minardi, Raffaella / Tinuper, Paolo / Bisulli, Francesca

    Frontiers in neurology

    2022  Volume 12, Page(s) 807939

    Abstract: Epilepsy with auditory features (EAF) is a focal epilepsy belonging to the focal epileptic syndromes with onset at variable age according to the new ILAE Classification. It is characterized by seizures with auditory aura or receptive aphasia suggesting a ...

    Abstract Epilepsy with auditory features (EAF) is a focal epilepsy belonging to the focal epileptic syndromes with onset at variable age according to the new ILAE Classification. It is characterized by seizures with auditory aura or receptive aphasia suggesting a lateral temporal lobe involvement of the epileptic discharge. Etiological factors underlying EAF are largely unknown. In the familial cases with an autosomal dominant pattern of inheritance several genes have been involved, among which the first discovered,
    Language English
    Publishing date 2022-01-27
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2564214-5
    ISSN 1664-2295
    ISSN 1664-2295
    DOI 10.3389/fneur.2021.807939
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  8. Article ; Online: Sex differences in side effects of antiseizure medications in pediatric patients with epilepsy: A systematic review.

    Giuliano, Loretta / Vecchio, Chiara / Mastrangelo, Vincenzo / Durante, Vania / Zambrelli, Elena / Cantalupo, Gaetano / La Neve, Angela / Ermio, Caterina / Mostacci, Barbara

    Seizure

    2022  Volume 102, Page(s) 6–13

    Abstract: Purpose: To perform a systematic review searching for differences in the side effects of antiseizure medications (ASMs) with respect to sex in pediatric patients with epilepsy.: Methods: We carried out a comprehensive literature search of the PubMed ... ...

    Abstract Purpose: To perform a systematic review searching for differences in the side effects of antiseizure medications (ASMs) with respect to sex in pediatric patients with epilepsy.
    Methods: We carried out a comprehensive literature search of the PubMed database and all results up to April 2020 were included. Titles, abstracts, and full texts of the articles were screened by two independent reviewers. We included all studies evaluating the side effects of ASMs in patients with epilepsy younger than 18 years, with reference to the two sexes. Studies on ASMs used for indications other than epilepsy were excluded.
    Results: A total of 5164 studies were identified. Sixty-seven studies were finally included, 5 of them also including adult patients in the sample. Sixteen studies revealed sex-related differences in side effects of ASMs, disclosing a higher frequency of general side effects in girls: a higher risk of overweight, hyperammonaemia, high leptin levels, and carnitine deficiency in girls on valproic acid; a lower height increase, an increased risk of weight loss, the anecdotical occurrence of acute psychosis in girls on topiramate; a higher risk of retinal toxicity in boys on vigabatrin.
    Conclusion: The effect of sex on susceptibility to side effects of ASMs is poorly investigated with sparse results, and it could be underestimated. The findings of our study point to the presence of sex differences which should be thoroughly investigated to be confirmed, highlighting the need for a systematic evaluation of sex as a determinant variable influencing the response to medications in clinical research.
    MeSH term(s) Adult ; Child ; Humans ; Female ; Male ; Anticonvulsants/adverse effects ; Sex Characteristics ; Epilepsy/epidemiology ; Vigabatrin/therapeutic use ; Topiramate/therapeutic use ; Drug-Related Side Effects and Adverse Reactions/drug therapy
    Chemical Substances Anticonvulsants ; Vigabatrin (GR120KRT6K) ; Topiramate (0H73WJJ391)
    Language English
    Publishing date 2022-09-17
    Publishing country England
    Document type Systematic Review ; Journal Article ; Review
    ZDB-ID 1137610-7
    ISSN 1532-2688 ; 1059-1311
    ISSN (online) 1532-2688
    ISSN 1059-1311
    DOI 10.1016/j.seizure.2022.09.013
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    Zs.A 3573: Show issues Location:
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  9. Article ; Online: Real-world experience with cannabidiol as add-on treatment in drug-resistant epilepsy.

    Vicino, Walter / Muccioli, Lorenzo / Pondrelli, Federica / Licchetta, Laura / Stipa, Carlotta / Mostacci, Barbara / Vito, Lidia Di / Ferri, Lorenzo / Cancellerini, Chiara / Sold, Martina / Tinuper, Paolo / Bisulli, Francesca

    Seizure

    2023  Volume 111, Page(s) 39–41

    Abstract: Purpose: To evaluate the efficacy and safety of cannabidiol (CBD) for the treatment of epilepsy in a real-world setting.: Methods: In this retrospective observational study, we included PwE with epilepsy who received a prescription for CBD between 01. ...

    Abstract Purpose: To evaluate the efficacy and safety of cannabidiol (CBD) for the treatment of epilepsy in a real-world setting.
    Methods: In this retrospective observational study, we included PwE with epilepsy who received a prescription for CBD between 01.03.2019 and 30.11.2022 and had a follow-up period ≥ 3 months. Participants were evaluated at baseline and after 3, 6, and 12 months. "Responders" were defined as individuals experiencing a reduction in seizure frequency > 30% but < 80% compared to baseline, while "super responders" were those with a reduction ≥ 80%. Adverse events were recorded to assess safety.
    Results: Forty-two PwE were included (mean age 36.1 ± 10.9 years; 14 females). In 24 patients CBD was prescribed on-label (Lennox-Gastaut syndrome, n = 18; Dravet syndrome, n = 5; tuberous sclerosis, n = 1), while 18 patients were treated off-label (ring chromosome 20 syndrome, n = 1; ring chromosome 17 syndrome, n = 1; Lafora disease, n = 3; Unverricht-Lundborg disease, n = 1; polymicrogyria, n = 2; febrile infection-related epilepsy syndrome, n = 1; non-lesional focal epilepsy, n = 2; developmental and/or epileptic encephalopathy of unknown etiology n = 6). The mean number of concomitant antiseizure medications was 3.4 (≥2 for all patients). At 3 months, 10 subjects (23%) were "responders" and 12 (29%) were "super-responders". Efficacy was sustained at 6 and 12 months of follow-up. Twenty-two patients (52.3%) developed AEs, with drowsiness (36.5%) and diarrhea (9.8%) being the most common. The retention rate was 85.7%, 78.6%, and 71.4% at 3, 6, and 12 months, respectively.
    Conclusions: In this monocentric real-world study, CBD was a safe and effective therapeutic option for highly drug-resistant patients, leading to a dramatic reduction in seizure frequency in over one-fourth of them, including off-label indications.
    Language English
    Publishing date 2023-07-17
    Publishing country England
    Document type Journal Article
    ZDB-ID 1137610-7
    ISSN 1532-2688 ; 1059-1311
    ISSN (online) 1532-2688
    ISSN 1059-1311
    DOI 10.1016/j.seizure.2023.07.009
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  10. Article ; Online: Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.

    Pondrelli, Federica / Minardi, Raffaella / Muccioli, Lorenzo / Zenesini, Corrado / Vignatelli, Luca / Licchetta, Laura / Mostacci, Barbara / Tinuper, Paolo / Vander Kooi, Craig W / Gentry, Matthew S / Bisulli, Francesca

    Orphanet journal of rare diseases

    2023  Volume 18, Issue 1, Page(s) 263

    Abstract: Background: Lafora disease (LD) is a fatal form of progressive myoclonic epilepsy caused by biallelic pathogenic variants in EPM2A or NHLRC1. With a few exceptions, the influence of genetic factors on disease progression has yet to be confirmed. We ... ...

    Abstract Background: Lafora disease (LD) is a fatal form of progressive myoclonic epilepsy caused by biallelic pathogenic variants in EPM2A or NHLRC1. With a few exceptions, the influence of genetic factors on disease progression has yet to be confirmed. We present a systematic review and meta-analysis of the known pathogenic variants to identify genotype-phenotype correlations.
    Methods: We collected all reported cases with genetically-confirmed LD containing data on disease history. Pathogenic variants were classified into missense (MS) and protein-truncating (PT). Three genotype classes were defined according to the combination of the variants: MS/MS, MS/PT, and PT/PT. Time-to-event analysis was performed to evaluate survival and loss of autonomy.
    Results: 250 cases described in 70 articles were included. The mutated gene was NHLRC1 in 56% and EPM2A in 44% of cases. 114 pathogenic variants (67 EPM2A; 47 NHLRC1) were identified. The NHLRC1 genotype PT/PT was associated with shorter survival [HR 2.88; 95% CI 1.23-6.78] and a trend of higher probability of loss of autonomy [HR 2.03, 95% CI 0.75-5.56] at the multivariable Cox regression analysis. The population carrying the homozygous p.Asp146Asn variant of NHLRC1 genotype was confirmed to have a more favourable prognosis in terms of disease duration.
    Conclusions: This study demonstrates the existence of prognostic genetic factors in LD, namely the genotype defined according to the functional impact of the pathogenic variants. Although the reasons why NHLRC1 genotype PT/PT is associated with a poorer prognosis have yet to be fully elucidated, it may be speculated that malin plays a pivotal role in LD pathogenesis.
    MeSH term(s) Humans ; Lafora Disease/genetics ; Prognosis ; Tandem Mass Spectrometry ; Myoclonic Epilepsies, Progressive ; Disease Progression ; Ubiquitin-Protein Ligases/genetics
    Chemical Substances NHLRC1 protein, human (EC 2.3.2.27) ; Ubiquitin-Protein Ligases (EC 2.3.2.27)
    Language English
    Publishing date 2023-09-02
    Publishing country England
    Document type Meta-Analysis ; Systematic Review ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2225857-7
    ISSN 1750-1172 ; 1750-1172
    ISSN (online) 1750-1172
    ISSN 1750-1172
    DOI 10.1186/s13023-023-02880-6
    Database MEDical Literature Analysis and Retrieval System OnLINE

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