Gastrointestinal Symptoms and Channelopathy-Associated Epilepsy

Beck, Veronica C.; Isom, Lori L.; Berg, Anne T.

doi:10.1016/j.jpeds.2021.06.034

Cited by 11 publications

(11 citation statements)

References 53 publications

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“…GI disturbances constituted the most common adverse effect noted in our current patients, and this result was similar to those of other studies [4,[36][37][38]. Beck et al [39] found that physical inactivity, limited mobility, ASM, and presence of autism spectrum disorder may cause constipation as well as developmental and epileptic encephalopathy, and that children with iron channel-gene-linked developmental and epileptic encephalopathies have a high prevalence of GI symptoms. Joo Hee Seo et al [40] found that a 3:1 KD would cause reduced GI disturbances compared with 4:1 KD.…”

Section: Discussionsupporting

confidence: 92%

Improving the effects of ketogenic diet therapy in children with drug-resistant epilepsy

Yang

Wen

Wei

et al. 2022

Seizure

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Section: Discussionsupporting

confidence: 92%

Improving the effects of ketogenic diet therapy in children with drug-resistant epilepsy

Yang

Wen

Wei

et al. 2022

Seizure

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“…Gastrointestinal (GI) issues are common among those with KCNQ2-DEE, according to families (Fig. 5), as described by Dr. Berg [7]. Risk factors include limited mobility, medications, and the ketogenic diet, although the main factor responsible for GI symptoms is not clear.…”

Section: Kcnq2 "Coexpressions"mentioning

confidence: 99%

<i>KCNQ2</i>- and <i>KCNQ3</i>-Associated Epilepsy

2022

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KCNQ2 and KCNQ3 encode subunits (KV7.2, KV7.3) that combine to form a voltage-gated potassium ion (K+) channel responsible for generating an ionic current (M-current) important for controlling activity in the nervous system. Pathogenic variants in both genes are associated with a spectrum of genetic neurological disorders that feature epilepsy of variable severity and can be accompanied by debilitating impaired neurodevelopment. These two genes were among the first discovered causes of monogenic epilepsy, and are frequently identified in persons with early-life epilepsy. This Element provides a comprehensive review of the clinical features, genetic basis, pathophysiology, pharmacology and treatment of these prototypical neurological disorders accompanied by perspectives shared by affected families and scientists who have made seminal contributions to the field. This title is also available as Open Access on Cambridge Core.

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“…• 55/78 with DEE 7 have GI symptoms including GI dysmotility and constipation (important to consider that many antiseizure medications have negative impacts on GI function 135 136 137…”

Section: Introduction To Autism and Gastrointestinal Symptomsmentioning

confidence: 99%

“…• Ketogenic diet reduced seizure frequency and interictal events in more than half of patients ( n = 60) 137 153 154…”

Section: Introduction To Autism and Gastrointestinal Symptomsmentioning

confidence: 99%

“…• Benign familial neonatal seizures caused by inherited dominant variants in KCNQ2; developmental and epileptic encephalopathy 7 (DEE 7) also inherited variants with the parent experiencing more mild symptoms-in offspring, KCNQ2 often missense variants associated with more severe seizures that result in psychomotor difficulties.• 55/78 with DEE 7 have GI symptoms including GI dysmotility and constipation (important to consider that many antiseizure medications have negative impacts on GI function[135][136][137] Butyrate-dependent K-secretion through KCNQ2 in the colon 138MECP2Xq28 312750 65/50,377• Rett syndrome; X-linked de novo variants that cause loss-of-function • In girls: developmental delay and hypotonia <2 y followed by developmental regression and the emergence of repetitive movements, loss of language, loss of purposeful hand skills, altered gait producing life-long dependence • In boys: neonatal encephalopathy-• Pitt-Hopkins-like syndrome 2 caused by autosomal recessive variants; heterozygous variants mild linked to various psychiatric conditions/no ID. • Chronic constipation120,149 Seminars in Neurology Vol 43.…”

mentioning

confidence: 99%

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Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders

Davidson,

Holingue,

Jimenez-Gomez

et al. 2023

Semin Neurol

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Gastrointestinal symptoms are common in most forms of neurodevelopment disorders (NDDs) such as in autism spectrum disorders (ASD). The current patient-reported outcome measures with validated questionnaires used in the general population of children without NDDS cannot be used in the autistic individuals. We explore here the multifactorial pathophysiology of ASD and the role of genetics and the environment in this disease spectrum and focus instead on possible diagnostics that could provide future objective insight into the connection of the gut-brain-microbiome in this disease entity. We provide our own data from both humans and a zebrafish model of ASD called Phelan-McDermid Syndrome. We hope that this review highlights the gaps in our current knowledge on many of these profound NDDs and that it provides a future framework upon which clinicians and researchers can build and network with other interested multidisciplinary specialties.

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Gastrointestinal Symptoms and Channelopathy-Associated Epilepsy

Cited by 11 publications

References 53 publications

Improving the effects of ketogenic diet therapy in children with drug-resistant epilepsy

Improving the effects of ketogenic diet therapy in children with drug-resistant epilepsy

<i>KCNQ2</i>- and <i>KCNQ3</i>-Associated Epilepsy

Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders

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