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SCN1A is the gene that undergoes mutations for the symptoms we see in this condition. This disruption causes interference from the body cells to brain which can cause a plethora of problems.

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An addition of an 18th chromosome is responsible for Edwards Syndrome. The extra expression of the 18th chromosome is determined the cause of the symptoms seen in this condition.

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With Edwards Syndrome being a rare condition its prevalence is determined to be around 1 to 7,500 births (Balasundaram and Avulakunta 2022). With fairly low odds to conceive a child with this condition there is a tough decision to make because there is no cure/ long term treatment, a child would remain in a total care setting for their entire life.

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Common symptoms of Edwards Syndrome ares small head/jaw, seizures, feeding, breathing, and hearing problems. These symptoms are bad enough to where the affected child will never be able to live on their own.  In this comparison of symptoms between other conditions we will be highlighting on seizures. (NHS 2020)

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Anaphase in mitosis, meiosis I, or meiosis II can lead to nondisjunction of chromosomes. There are chances of first division nondisjunction and second division non disjunction, both give rise for a chance of trisomy which is a cause of Edwards Syndrome.

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PCDH19 epilepsy is caused by whole gene deletion of the PCDH19 gene on the X chromosome (Depienne 2011). This aberration of PCDH19 has functions hit deal with the body's communication to the brain. The interference that is caused by this loss of a gene is responsible for symptoms that come along with it. As we can see in the image, PCDH19 aberration is present in mutated females and more rarely in males due to X-linked inheritance patterns.

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Many of the symptoms of the PCDH19 gene aberration deal with the sensory, behavioral, and other developmental delays. But a large factor is the early onset seizures that take into effect before the age of 5 years old (Gursoy et al. 2020). These seizures are a threat the life of the child and stability of their body. It is important to treat these the best way we know how.

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In the United States of American there is a ratio of every 1 to 11,000 people that have this condition. This is such a rare disease because it is X-linked disorder which means it usually goes asymptomatic in males and women have a higher tendency to the gene mutation. The only treatment available for PCDH19 gene deletion is medicine that prevent seizures and special adaptive learning as the children progress (Kiriakopoulos et al. 2022).

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A cleavage of the PCDH19 gene leads to the interruption of communication in the body. PCDH19 helps regulate neuronal homeostasis and is a prime example of the production of seizures. (Gerosa et al. 2022)

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MERRF is caused by a couple deletions in the mtDNA genome, but according to the studies there are no specific nuclear gene that can be determined responsible yet (Velez-Bartolomei et al. 2021). This mitochondrial deletion in fact cause abnormality in the muscles and nervous system leading too hard to control seizures. This mutation is located on the gene MT-TK. On this gene at m. 8344A>G there is a mutation and is anticipated to cause the symptoms of MERRF (MERRF Syndrome 2021).

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MERRF symptoms are caused by deletions at m. 8344A>G on the MT-TK gene and this causes lactic acidosis. This is the build up of lactic acid in the body. This leads to a lessen appetite, fatigue, muscle pain, and ataxia which can cause seizures (Velez-Bartolomei et al. 2021). The range of these symptoms can vary greatly, there are patients that can survive with very little handicap and others that require palliative care all their life.

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Symptoms of Dravet Syndrome are various such as ataxia, delay in speech and cognitive thinking, and also seizures (Marini et al. 2009). These seizures are triggered by higher body temperature such as laying out in the sun. Someone with this disorder is not expected to live longer than 10 years even with all kinds of treatment.

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In the United States of America 1 in 30,000 People are diagnosed with Dravet syndrome (Joshi and Wirrell 2020). This is a very rare condition but the children who are diagnosed are at risk of extreme seizures that threaten their life. Once again there is no cure for this condition, but most aim to reduce seizures to a manageable amount and magnitude. Special care for daily life activities and also developmental progression (Sullivan et al. 2022).

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The prevalence of MERRF is estimated to be about 1 to 5000 people worldwide (Rahman 2012) which is a fairly rare mitochondrial condition. There are no cure and no reports of specific treatments. Medicine will be needed to reduce seizures, also there will be special treatment for needed learning, bathing, feeding, and other daily activities.

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While researching MERRF there have been indication in mutations in all 37 mitochondrial genes. These mutations in the genes have proven to produce lactic acidosis and ataxia in muscles (Rahman 2012). There is no additional evidence of what mutation specific causes these symptoms but there is a direct link to the cause of these symptoms.

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Dravet Syndrome is caused by multiple deletions in the SCN1A and even a duplication. These mutations are responsible for the effects on the sodium voltage gate (Marini et al. 2009). The blockage or disruption of the sodium voltage gate impacts communication to different parts of the body which is the main cause of seizures.

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Seizures and Their Similarities/Differences  

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Seizures and Their Similarities/Differences  

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In this comparison we Edwards Syndrome as the odd condition. Seizures in Edwards Syndrome are caused by the extra Expression of chromosome 18's duplication while our other three are shown to be disruption in some type of communication in the body. While this may different the treatment is always the same, we see that seizures cannot be cured and the only/main treatment is to be prescribed medicine to help contain them.

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Balasundaram, P., & Avulakunta, I. D. (2022, January 12). Human Growth and Development. PubMed; StatPearls Publishing. https://pubmed.ncbi.nlm.nih.gov/33620844/

Depienne, C., Trouillard, O., Bouteiller, D., Gourfinkel-An, I., Poirier, K., Rivier, F., Berquin, P., Nabbout, R., Chaigne, D., Steschenko, D., Gautier, A., Hoffman-Zacharska, D., Lannuzel, A., Lackmy-Port-Lis, M., Maurey, H., Dusser, A., Bru, M., Gilbert-Dussardier, B., Roubertie, A., & Kaminska, A. (2011). Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females. Human Mutation, 32(1), E1959-1975. https://doi.org/10.1002/humu.21373

Devinsky, O., Cross, J. H., Laux, L., Marsh, E., Miller, I., Nabbout, R., Scheffer, I. E., Thiele, E. A., & Wright, S. (2017). Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome. The New England Journal of Medicine, 376(21), 2011–2020. https://doi.org/10.1056/NEJMoa1611618

Gerosa, L., Mazzoleni, S., Rusconi, F., Longaretti, A., Lewerissa, E., Pelucchi, S., Murru, L., Giannelli, S. G., Broccoli, V., Marcello, E., Kasri, N. N., Battaglioli, E., Passafaro, M., & Bassani, S. (2022). The epilepsy-associated protein PCDH19 undergoes NMDA receptor-dependent proteolytic cleavage and regulates the expression of immediate-early genes. Cell Reports, 39(8), 110857.
https://doi.org/10.1016/j.celrep.2022.110857

Gürsoy, S., Ataman, E., Baysal, B., Özyılmaz, B., Gençpınar, P., Hız, A., Yiş, U., Ünalp, A., Dündar, N., Ülgenalp, A., & Erçal, D. (2020). Identification of PCDH19 gene mutations/deletions in patients with early onset epilepsy. Annals of Indian Academy of Neurology, 0(0), 0. https://doi.org/10.4103/aian.aian_465_19

Kiriakopoulos, E. (2022, April 4). PCDH19 Epilepsy. Epilepsy Foundation. https://www.epilepsy.com/causes/genetic/pcdh19-epilepsy

Marini, C., Scheffer, I. E., Nabbout, R., Mei, D., Cox, K., Dibbens, L. M., McMahon, J. M., Iona, X., Carpintero, R. S., Elia, M., Cilio, M. R., Specchio, N., Giordano, L., Striano, P., Gennaro, E., Cross, J. H., Kivity, S., Neufeld, M. Y., Afawi, Z., & Andermann, E. (2009). SCN1Aduplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis. Epilepsia, 50(7), 1670–1678. https://doi.org/10.1111/j.1528-1167.2009.02013.x

MERRF Syndrome. (2021). NORD (National Organization for Rare Disorders). https://rarediseases.org/rare-diseases/merrf-syndrome/

NHS. (2019). Edwards’ Syndrome (trisomy 18). NHS. https://www.nhs.uk/conditions/edwards-syndrome/

RAHMAN, S. (2012). Mitochondrial disease and epilepsy. Developmental Medicine & Child Neurology, 54(5), 397–406. https://doi.org/10.1111/j.1469-8749.2011.04214.x

Sullivan, J., Deighton, A. M., Vila, M. C., Szabo, S. M., Maru, B., Gofshteyn, J. S., James, E. S., Rico, S., & Zuberi, S. M. (2022). The clinical, economic, and humanistic burden of Dravet syndrome – A systematic literature review. Epilepsy & Behavior, 130, 108661. https://doi.org/10.1016/j.yebeh.2022.108661

Velez-Bartolomei, F., Lee, C., & Enns, G. (1993). MERRF (M. P. Adam, H. H. Ardinger, R. A. Pagon, S. E. Wallace, L. J. Bean, G. Mirzaa, & A. Amemiya, Eds.). PubMed; University of Washington, Seattle. https://pubmed.ncbi.nlm.nih.gov/20301693/
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