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  1. Article ; Online: The Relationship Between Glycated Hemoglobin and Time in Range in a Pediatric Population.

    Vandenbempt, Mathilde / Matheussen, Hanne / Charleer, Sara / Rochtus, Anne / Casteels, Kristina

    Diabetes technology & therapeutics

    2024  Volume 26, Issue 5, Page(s) 346–350

    Abstract: In adults with type 1 diabetes (T1D), time in range (TIR) [70-180 mg/dL] has been proposed as an additional metric besides glycated hemoglobin (HbA1c). This retrospective monocentric cohort study determined the correlation between HbA1c and TIR during ... ...

    Abstract In adults with type 1 diabetes (T1D), time in range (TIR) [70-180 mg/dL] has been proposed as an additional metric besides glycated hemoglobin (HbA1c). This retrospective monocentric cohort study determined the correlation between HbA1c and TIR during the 2, 4, and 12 weeks (TIR
    MeSH term(s) Humans ; Glycated Hemoglobin/analysis ; Retrospective Studies ; Diabetes Mellitus, Type 1/blood ; Diabetes Mellitus, Type 1/drug therapy ; Diabetes Mellitus, Type 1/complications ; Female ; Male ; Child ; Blood Glucose/analysis ; Adolescent ; Blood Glucose Self-Monitoring ; Glycemic Control/statistics & numerical data ; Child, Preschool ; Time Factors ; Hypoglycemic Agents/therapeutic use
    Chemical Substances Glycated Hemoglobin ; Blood Glucose ; hemoglobin A1c protein, human ; Hypoglycemic Agents
    Language English
    Publishing date 2024-01-04
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1452816-2
    ISSN 1557-8593 ; 1520-9156
    ISSN (online) 1557-8593
    ISSN 1520-9156
    DOI 10.1089/dia.2023.0482
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  2. Article ; Online: Behavioral Changes in Patients With Prader-Willi Syndrome Can Mask Severe Physical Illness.

    Van Loo, Liselotte / Vogels, Annick / Rochtus, Anne

    JCEM case reports

    2023  Volume 1, Issue 1, Page(s) luac034

    Abstract: Behavioral and psychiatric problems are common in patients with Prader-Willi syndrome (PWS), while physical complaints such as pain, fever, and vomiting are rare due to a high pain threshold and dysregulation of temperature control. PWS patients have an ... ...

    Abstract Behavioral and psychiatric problems are common in patients with Prader-Willi syndrome (PWS), while physical complaints such as pain, fever, and vomiting are rare due to a high pain threshold and dysregulation of temperature control. PWS patients have an increased mortality rate, some due to undiagnosed life-threatening diseases. We describe 2 patients with PWS whose behavioral changes, initially thought to be part of their behavioral phenotype, delayed the final diagnosis of a life-threatening underlying illness. A 13-year-old girl with PWS presented with a sudden change in behavior including aggression, scratching, and self-injury. She was seen by several health care providers, and after 5 months the diagnosis of pyosalpinx was made, for which laparoscopic resection of an infected tailgut cyst was performed, resolving the behavioral symptoms. A 38-year-old man with PWS presented with recurrent vague inguinal pain and nonepileptic seizures. After several years of consulting physicians and psychiatrists, including several hospital admissions, the diagnosis of bilateral inguinal hernia was made. After surgical correction, the pain and seizures ceased. In PWS patients presenting with unexplained behavioral changes and unusual somatic complaints, clinicians should perform an extensive clinical examination and consider underlying physical illness rather than attribute the problem to the behavioral phenotype.
    Language English
    Publishing date 2023-02-03
    Publishing country England
    Document type Case Reports
    ISSN 2755-1520
    ISSN (online) 2755-1520
    DOI 10.1210/jcemcr/luac034
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  3. Article ; Online: Reversible Hypothalamic Obesity in a Girl with Suprasellar Tuberculoma.

    Rochtus, Anne / Lagae, Lieven / Jansen, Katrien / De Somer, Lien / Vermeulen, François / de Zegher, Francis

    Hormone research in paediatrics

    2023  Volume 97, Issue 2, Page(s) 165–171

    Abstract: Introduction: Suprasellar tuberculoma are extremely rare in children and most of those patients present with headache, vomiting, visual disturbances, and hypofunction of the pituitary gland. In this case report, we present a girl with tuberculosis, who ... ...

    Abstract Introduction: Suprasellar tuberculoma are extremely rare in children and most of those patients present with headache, vomiting, visual disturbances, and hypofunction of the pituitary gland. In this case report, we present a girl with tuberculosis, who developed significant weight gain in combination with pituitary dysfunction, which recovered after antituberculosis treatment.
    Case presentation: An 11-year old girl presented with headache, fever and anorexia that progressively evolved into an encephalopathic status with cranial nerves III and VI paresis. Brain MRI showed meningeal contrast capture along cranial nerves II (including optic chiasm), III, V and VI bilaterally and multiple contrast enhancing brain parenchyma lesions. Tuberculin skin test was negative but interferon-gamma release assay was positive. The clinical and radiological working diagnosis was consistent with tuberculous meningoencephalitis. Pulse corticosteroids for 3 days and quadruple antituberculosis therapy were started and the girl demonstrated obvious improvement of her neurological symptoms. However, after a few months of therapy she developed remarkable weight gain (+20 kg in 1 year) and growth arrest. Her hormone profile revealed insulin resistance (homeostasis model assessment-estimated insulin resistance [HOMA-IR] 6.8) despite putative growth hormone deficiency (circulating insulin-like growth factor-I [IGF-I] 104 μg/L [-2.4 SD]). Follow-up brain MRI showed a decrease in basal meningitis, but increased parenchymal lesions in the suprasellar region extending medially into the nucleus lentiformis, with now a voluminous tuberculoma at this site. Antituberculosis treatment was continued for a total of 18 months. The patient improved clinically, she regained her pre-illness Body Mass Index (BMI) SDS and her growth rate increased slightly. On the hormonal side, disappearance of insulin resistance (HOMA-IR 2.5) and an increase in IGF-I (175 μg/L, -1.4 SD) was noted, and her last brain MRI showed a remarkable volume reduction of the suprasellar tuberculoma.
    Conclusion: Suprasellar tuberculoma can have a very dynamic presentation during the active stage of the disease, which can be reversed by prolonged antituberculosis treatment. Previous studies showed that the tuberculous process can also cause long term and irreversible changes in the hypothalamic-pituitary axis. Prospective studies are however needed in the pediatric population to know the exact incidence and type of pituitary dysfunction.
    MeSH term(s) Female ; Humans ; Child ; Insulin-Like Growth Factor I/therapeutic use ; Insulin Resistance ; Prospective Studies ; Tuberculoma/diagnosis ; Tuberculoma/drug therapy ; Tuberculoma/pathology ; Magnetic Resonance Imaging/adverse effects ; Headache/drug therapy ; Headache/etiology ; Antitubercular Agents/therapeutic use ; Weight Gain ; Obesity/complications
    Chemical Substances Insulin-Like Growth Factor I (67763-96-6) ; Antitubercular Agents
    Language English
    Publishing date 2023-03-28
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2537278-6
    ISSN 1663-2826 ; 1663-2818
    ISSN (online) 1663-2826
    ISSN 1663-2818
    DOI 10.1159/000530384
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  4. Article: Hypothalamic lipoma and growth hormone deficiency.

    Rochtus, Anne / Vinckx, Joseph / de Zegher, Francis

    International journal of pediatric endocrinology

    2020  Volume 2020, Page(s) 4

    Abstract: Background: Intracranial lipomas are rare, congenital lesions, most often located at the midline. Most hypothalamic lipomas are asymptomatic, but some cases have been associated with precocious puberty, hypothermia, headache and/or obesity.: Case ... ...

    Abstract Background: Intracranial lipomas are rare, congenital lesions, most often located at the midline. Most hypothalamic lipomas are asymptomatic, but some cases have been associated with precocious puberty, hypothermia, headache and/or obesity.
    Case presentation: A 7-year-old boy was referred for short stature and proved to be partially growth-hormone deficient. Magnetic resonance imaging (MRI) revealed a lipoma in the paramedian hypothalamus. Growth hormone treatment resulted in swift and uncomplicated catch-up growth.
    Conclusions: The present case appears to be the first to link hypothalamic lipoma to GH deficiency. The neuro-endocrine pathophysiology underpinning this link remains to be explored.
    Language English
    Publishing date 2020-02-05
    Publishing country England
    Document type Case Reports
    ZDB-ID 2528691-2
    ISSN 1687-9856 ; 1687-9848
    ISSN (online) 1687-9856
    ISSN 1687-9848
    DOI 10.1186/s13633-020-0074-9
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  5. Article ; Online: Antiseizure medications and thyroid hormone homeostasis: Literature review and practical recommendations.

    Rochtus, Anne Maria / Herijgers, Dorien / Jansen, Katrien / Decallonne, Brigitte

    Epilepsia

    2021  Volume 63, Issue 2, Page(s) 259–270

    Abstract: Thyroid hormones play an essential role in central nervous system development, normal physiological brain function, and repair mechanisms. On one hand, thyroid hormone alterations influence cortical excitability, and on the other hand antiseizure ... ...

    Abstract Thyroid hormones play an essential role in central nervous system development, normal physiological brain function, and repair mechanisms. On one hand, thyroid hormone alterations influence cortical excitability, and on the other hand antiseizure medications (ASMs) are associated with alterations in thyroid hormone metabolism. Although this interaction has long been described, and epilepsy is a common and chronic neurological disease, studies describing the interplay are often small and retrospective. We performed a systematic review of the current literature on epilepsy, ASMs, and thyroid hormone metabolism according to PRISMA guidelines. Forty-seven studies were included. Most studies were retrospective cross-sectional studies (n = 25) and investigated thyroid function alterations in patients on older ASMs such as phenobarbital, phenytoin, carbamazepine, and valproate. Overall, almost one third of patients with epilepsy had thyroid hormone alterations, especially patients on valproate (25%) and carbamazepine (10%-25%). Studies with patients receiving polytherapy are scarce, but reported a higher risk for hypothyroidism in patients with older age (p = .004), female sex (p = .014), longer duration of epilepsy (p = .001), intractable epilepsy (p = .009), and polytherapy. Studies on newer ASMs are also limited, and further studies on an interplay with thyroid hormone homeostasis are essential to improve the care for epilepsy patients. ASMs are associated with alterations in thyroid hormone metabolism. Thyroid function monitoring is indicated in patients on ASMs, especially those with refractory epilepsy and those on polytherapy. We provide a practical guidance for thyroid function monitoring for the clinician taking care of patients on ASMs.
    MeSH term(s) Anticonvulsants/adverse effects ; Benzodiazepines/therapeutic use ; Carbamazepine/adverse effects ; Cross-Sectional Studies ; Epilepsy/chemically induced ; Epilepsy/drug therapy ; Female ; Homeostasis ; Humans ; Retrospective Studies ; Thyroid Hormones/therapeutic use ; Valproic Acid/therapeutic use
    Chemical Substances Anticonvulsants ; Thyroid Hormones ; Benzodiazepines (12794-10-4) ; Carbamazepine (33CM23913M) ; Valproic Acid (614OI1Z5WI)
    Language English
    Publishing date 2021-11-09
    Publishing country United States
    Document type Journal Article ; Review ; Systematic Review
    ZDB-ID 216382-2
    ISSN 1528-1167 ; 0013-9580
    ISSN (online) 1528-1167
    ISSN 0013-9580
    DOI 10.1111/epi.17117
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    Zs.A 517: Show issues Location:
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    Zs.MO 475: Show issues

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  6. Article ; Online: Near adult height and BMI changes in growth hormone treated short children with Noonan syndrome: the Belgian experience.

    De Schepper, Jean / Thomas, Muriel / Huysentruyt, Koen / Becker, Marianne / Boros, Emese / Casteels, Kristina / Chivu, Olimpia / De Waele, Kathleen / Dotremont, Hilde / Lysy, Philippe A / Massa, Guy / Parent, Anne-Simone / Rochtus, Anne / Gies, Inge

    Hormone research in paediatrics

    2024  

    Abstract: Introduction A variable near adult height (NAH) outcome after growth hormone (GH) therapy in Noonan syndrome (NS) patients with short stature has been reported. The main objective of this study was to evaluate NAH and body mass index (BMI) evolution in a ...

    Abstract Introduction A variable near adult height (NAH) outcome after growth hormone (GH) therapy in Noonan syndrome (NS) patients with short stature has been reported. The main objective of this study was to evaluate NAH and body mass index (BMI) evolution in a large Belgian cohort of NS patients treated for short stature. The secondary objectives were to investigate whether sex, genotype, the presence of a thoracic deformity and/or a heart anomaly might affect NAH and to validate the recently developed NAH prediction model by Ranke et al. Methods Clinical and auxological data of GH treated short NS patients born before 2001 were extracted from the national Belgrow registry. NAH was available in 54 (35 male) genotyped NS using a gene panel of 9 genes, showing pathogenic variants in PTPN11 in 32 and in SOS1 in 5 patients, while in 17 patients gene panel analysis was inconclusive (no mutation group). Results After a median (P10; P90) duration of 5.4 (2.2-10.3) years of GH therapy with a median dose of 0.05 mg/kg/day NS patients reached a median NAH of -1.7 (-3.4; -0.8) SDS. Median total height gain was 1.1 (0.1; 2.3) SDS. Sex, genotype and the presence of a thoracic or cardiac malformation did not correlate with NAH or total height gain. Linear regression modelling revealed that height SDS at start (beta=0.90, p<0.001), mid-parental height SDS (beta =0.27; p=0.005), birth weight SDS (beta=0.15; p=0.051), age at start (beta=0.07; p=0032) were independently associated with NAH SDS. Median BMI SDS increased significantly (p<0.001) from -1.0 (-2.5; 0.0) at start to -0.2 (-1.5; 0.9) at NAH. The observed NAH in a subgroup of 44 patients with more than 3 years of GH treatment was not statistically different from the predicted NAH by the Noonan NAH prediction model of Ranke. Conclusion Long-term GH therapy at a dose of 0.05 mg/kg/day in short NS patients is effective in improving adult height and BMI, irrespective of the genotype and presence or absence of cardiac and or thoracic anomalies.
    Language English
    Publishing date 2024-03-01
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2537278-6
    ISSN 1663-2826 ; 1663-2818
    ISSN (online) 1663-2826
    ISSN 1663-2818
    DOI 10.1159/000538034
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  7. Article ; Online: Similar metabolic pathways are affected in both Congenital Myasthenic Syndrome-22 and Prader-Willi Syndrome.

    Bhalla, Kritika / Rosier, Karen / Monnens, Yenthe / Meulemans, Sandra / Vervoort, Ellen / Thorrez, Lieven / Agostinis, Patrizia / Meier, Daniel T / Rochtus, Anne / Resnick, James L / Creemers, John W M

    Biochimica et biophysica acta. Molecular basis of disease

    2024  Volume 1870, Issue 5, Page(s) 167175

    Abstract: Loss of prolyl endopeptidase-like (PREPL) encoding a serine hydrolase with (thio)esterase activity leads to the recessive metabolic disorder Congenital Myasthenic Syndrome-22 (CMS22). It is characterized by severe neonatal hypotonia, feeding problems, ... ...

    Abstract Loss of prolyl endopeptidase-like (PREPL) encoding a serine hydrolase with (thio)esterase activity leads to the recessive metabolic disorder Congenital Myasthenic Syndrome-22 (CMS22). It is characterized by severe neonatal hypotonia, feeding problems, growth retardation, and hyperphagia leading to rapid weight gain later in childhood. The phenotypic similarities with Prader-Willi syndrome (PWS) are striking, suggesting that similar pathways are affected. The aim of this study was to identify changes in the hypothalamic-pituitary axis in mouse models for both disorders and to examine mitochondrial function in skin fibroblasts of patients and knockout cell lines. We have demonstrated that Prepl is downregulated in the brains of neonatal PWS-IC
    Language English
    Publishing date 2024-04-16
    Publishing country Netherlands
    Document type Journal Article
    ZDB-ID 60-7
    ISSN 1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650 ; 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    ISSN (online) 1879-260X ; 1879-2596 ; 1872-8006 ; 1879-2642 ; 1879-2618 ; 1879-2650
    ISSN 0006-3002 ; 0005-2728 ; 0005-2736 ; 0304-4165 ; 0167-4838 ; 1388-1981 ; 0167-4889 ; 0167-4781 ; 0304-419X ; 1570-9639 ; 0925-4439 ; 1874-9399
    DOI 10.1016/j.bbadis.2024.167175
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    Uc I Zs.247: Show issues Location:
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  8. Article ; Online: Early-childhood body mass index and its association with the COVID-19 pandemic, containment measures and islet autoimmunity in children with increased risk for type 1 diabetes.

    Hummel, Sandra / Rosenberger, Sarah / von dem Berge, Thekla / Besser, Rachel E J / Casteels, Kristina / Hommel, Angela / Kordonouri, Olga / Elding Larsson, Helena / Lundgren, Markus / Marcus, Benjamin A / Oltarzewski, Mariusz / Rochtus, Anne / Szypowska, Agnieszka / Todd, John A / Weiss, Andreas / Winkler, Christiane / Bonifacio, Ezio / Ziegler, Anette-G

    Diabetologia

    2024  Volume 67, Issue 4, Page(s) 670–678

    Abstract: Aims/hypothesis: The aim of this study was to determine whether BMI in early childhood was affected by the COVID-19 pandemic and containment measures, and whether it was associated with the risk for islet autoimmunity.: Methods: Between February 2018 ...

    Abstract Aims/hypothesis: The aim of this study was to determine whether BMI in early childhood was affected by the COVID-19 pandemic and containment measures, and whether it was associated with the risk for islet autoimmunity.
    Methods: Between February 2018 and May 2023, data on BMI and islet autoimmunity were collected from 1050 children enrolled in the Primary Oral Insulin Trial, aged from 4.0 months to 5.5 years of age. The start of the COVID-19 pandemic was defined as 18 March 2020, and a stringency index was used to assess the stringency of containment measures. Islet autoimmunity was defined as either the development of persistent confirmed multiple islet autoantibodies, or the development of one or more islet autoantibodies and type 1 diabetes. Multivariate linear mixed-effect, linear and logistic regression methods were applied to assess the effect of the COVID-19 pandemic and the stringency index on early-childhood BMI measurements (BMI as a time-varying variable, BMI at 9 months of age and overweight risk at 9 months of age), and Cox proportional hazard models were used to assess the effect of BMI measurements on islet autoimmunity risk.
    Results: The COVID-19 pandemic was associated with increased time-varying BMI (β = 0.39; 95% CI 0.30, 0.47) and overweight risk at 9 months (β = 0.44; 95% CI 0.03, 0.84). During the COVID-19 pandemic, a higher stringency index was positively associated with time-varying BMI (β = 0.02; 95% CI 0.00, 0.04 per 10 units increase), BMI at 9 months (β = 0.13; 95% CI 0.01, 0.25) and overweight risk at 9 months (β = 0.23; 95% CI 0.03, 0.43). A higher age-corrected BMI and overweight risk at 9 months were associated with increased risk for developing islet autoimmunity up to 5.5 years of age (HR 1.16; 95% CI 1.01, 1.32 and HR 1.68, 95% CI 1.00, 2.82, respectively).
    Conclusions/interpretation: Early-childhood BMI increased during the COVID-19 pandemic, and was influenced by the level of restrictions during the pandemic. Controlling for the COVID-19 pandemic, elevated BMI during early childhood was associated with increased risk for childhood islet autoimmunity in children with genetic susceptibility to type 1 diabetes.
    MeSH term(s) Humans ; Child, Preschool ; Diabetes Mellitus, Type 1 ; Autoimmunity/genetics ; Body Mass Index ; Pandemics ; Islets of Langerhans ; Overweight/complications ; COVID-19/epidemiology ; COVID-19/complications ; Autoantibodies
    Chemical Substances Autoantibodies
    Language English
    Publishing date 2024-01-12
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 1694-9
    ISSN 1432-0428 ; 0012-186X
    ISSN (online) 1432-0428
    ISSN 0012-186X
    DOI 10.1007/s00125-023-06079-z
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  9. Article: Comprehensive genetic testing approaches as the basis for personalized management of growth disturbances: current status and perspectives.

    van der Kaay, Danielle Christine Maria / Rochtus, Anne / Binder, Gerhard / Kurth, Ingo / Prawitt, Dirk / Netchine, Irène / Johannsson, Gudmundur / Hokken-Koelega, Anita C S / Elbracht, Miriam / Eggermann, Thomas

    Endocrine connections

    2022  Volume 11, Issue 11

    Abstract: The implementation of high-throughput and deep sequencing methods in routine genetic diagnostics has significantly improved the diagnostic yield in patient cohorts with growth disturbances and becomes increasingly important as the prerequisite of ... ...

    Abstract The implementation of high-throughput and deep sequencing methods in routine genetic diagnostics has significantly improved the diagnostic yield in patient cohorts with growth disturbances and becomes increasingly important as the prerequisite of personalized medicine. They provide considerable chances to identify even rare and unexpected situations; nevertheless, we must be aware of their limitations. A simple genetic test in the beginning of a testing cascade might also help to identify the genetic cause of specific growth disorders. However, the clinical picture of genetically caused growth disturbance phenotypes can vary widely, and there is a broad clinical overlap between different growth disturbance disorders. As a consequence, the clinical diagnosis and therewith connected the decision on the appropriate genetic test is often a challenge. In fact, the clinician asking for genetic testing has to weigh different aspects in this decision process, including appropriateness (single gene test, stepwise procedure, comprehensive testing), turnaround time as the basis for rapid intervention, and economic considerations. Therefore, a frequent question in that context is 'what to test when'. In this review, we aim to review genetic testing strategies and their strengths and limitations and to raise awareness for the future implementation of interdisciplinary genome medicine in diagnoses, treatment, and counselling of growth disturbances.
    Language English
    Publishing date 2022-10-10
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 2668428-7
    ISSN 2049-3614
    ISSN 2049-3614
    DOI 10.1530/EC-22-0277
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  10. Article ; Online: The role of sodium channels in sudden unexpected death in pediatrics.

    Rochtus, Anne M / Goldstein, Richard D / Holm, Ingrid A / Brownstein, Catherine A / Pérez-Palma, Eduardo / Haynes, Robin / Lal, Dennis / Poduri, Annapurna H

    Molecular genetics & genomic medicine

    2020  Volume 8, Issue 8, Page(s) e1309

    Abstract: Background: Sudden Unexpected Death in Pediatrics (SUDP) is a tragic event, likely caused by the complex interaction of multiple factors. The presence of hippocampal abnormalities in many children with SUDP suggests that epilepsy-related mechanisms may ... ...

    Abstract Background: Sudden Unexpected Death in Pediatrics (SUDP) is a tragic event, likely caused by the complex interaction of multiple factors. The presence of hippocampal abnormalities in many children with SUDP suggests that epilepsy-related mechanisms may contribute to death, similar to Sudden Unexplained Death in Epilepsy. Because of known associations between the genes SCN1A and SCN5A and sudden death, and shared mechanisms and patterns of expression in genes encoding many voltage-gated sodium channels (VGSCs), we hypothesized that individuals dying from SUDP have pathogenic variants across the entire family of cardiac arrhythmia- and epilepsy-associated VGSC genes.
    Methods: To address this hypothesis, we evaluated whole-exome sequencing data from infants and children with SUDP for variants in VGSC genes, reviewed the literature for all SUDP-associated variants in VGSCs, applied a novel paralog analysis to all variants, and evaluated all variants according to American College of Medical Genetics and Genomics (ACMG) guidelines.
    Results: In our cohort of 73 cases of SUDP, we assessed 11 variants as pathogenic in SCN1A, SCN1B, and SCN10A, genes with long-standing disease associations, and in SCN3A, SCN4A, and SCN9A, VGSC gene paralogs with more recent disease associations. From the literature, we identified 82 VGSC variants in SUDP cases. Pathogenic variants clustered at conserved amino acid sites intolerant to variation across the VGSC genes, which is unlikely to occur in the general population (p < .0001). For 54% of variants previously reported in literature, we identified conflicting evidence regarding pathogenicity when applying ACMG criteria and modern population data.
    Conclusion: We report variants in several VGSC genes in cases with SUDP, involving both arrhythmia- and epilepsy-associated genes. Accurate variant assessment as well as future studies are essential for an improved understanding of the contribution of sodium channel-related variants to SUDP.
    MeSH term(s) Child ; Child, Preschool ; Death, Sudden, Cardiac/etiology ; Genetic Testing ; Hippocampus/pathology ; Humans ; Infant ; Mutation ; Sodium Channels/genetics ; Sudden Infant Death/genetics ; Sudden Infant Death/pathology ; Sudden Unexpected Death in Epilepsy/etiology ; Sudden Unexpected Death in Epilepsy/pathology ; Exome Sequencing
    Chemical Substances Sodium Channels
    Language English
    Publishing date 2020-05-25
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
    ZDB-ID 2734884-2
    ISSN 2324-9269 ; 2324-9269
    ISSN (online) 2324-9269
    ISSN 2324-9269
    DOI 10.1002/mgg3.1309
    Database MEDical Literature Analysis and Retrieval System OnLINE

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