DISCUSSION We present the case of a 2-year-old Brazilian boy with SHS. [scielo.br]

Treatment The treatment of PACS1 Syndrome depends on the signs and symptoms present in each person. [pacs1smiles.org]

Figures S1–S4 and Tables S1 and S2: Web Resources The URLs for data presented herein are as follows: References 1. van Bokhoven H. Genetic and epigenetic networks in intellectual disabilities. Annu. Rev. Genet. 2011;45:81–104. [ncbi.nlm.nih.gov]

When a given causal variant is ultra-rare, however, this presents substantial difficulties. [elifesciences.org]

• Epilepsy

  BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes Leukoencephalopathy with ataxia, 615651; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, idiopathic [panelapp.genomicsengland.co.uk]

  Age, epilepsy and function We found few associations between any of these outcomes and the history of epilepsy or autism (Table 2). [ojrd.biomedcentral.com]

  We aimed to create clinical CDEs for pediatric epilepsy. [pesquisa.bvsalud.org.2351565263.proxy.jingzhou.gov.cn]

  For information on non-medical interventions and coping strategies for children diagnosed with epilepsy, see Epilepsy & My Child Toolkit. [ncbi.nlm.nih.gov]

  The patients also displayed severe developmental delays and ID, epilepsy, brain atrophy, and myelination delays associated with a thin corpus callosum. [karger.com]

• Fever

  Two parents reported the first seizure was accompanied by fever and one by vaccinations. [ojrd.biomedcentral.com]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

Treatment The treatment of PACS1 Syndrome depends on the signs and symptoms present in each person. [pacs1smiles.org]

Freedom from treatment failure at 60 days required no second treatment for infantile spasms and no clinical spasms after 30 days of treatment initiation. [pesquisa.bvsalud.org.2351565263.proxy.jingzhou.gov.cn]

Cardiac anomalies Treatment per cardiologist Abnormal vision &/or strabismus Standard treatment(s) per ophthalmologist Renal anomalies Treatment per nephrologist &/or urologist Family/ Community Ensure appropriate social work involvement to connect families [ncbi.nlm.nih.gov]

Also, time is a real issue as they do not know the long-term prognosis of the syndrome or whether there might be a limited treatment window. When getting started, Dr. [greenwichfreepress.com]

Also, time is a real issue as they do not know the long-term prognosis of the syndrome or whether there might be a limited treatment window. When getting started, Dr. [greenwichfreepress.com]

Prognosis Because PACS1 Syndrome is so rare, there is not a lot of information about the long-term outlook for children and adults with the Syndrome. PACS1 Syndrome is not known to shorten a person’s lifespan. [pacs1smiles.org]

Prognosis. It is unknown whether life span in individuals with PACS1-NDD is normal. One reported individual was alive at age 21 years [Schuurs-Hoeijmakers et al 2016], demonstrating that survival into adulthood is possible. [ncbi.nlm.nih.gov]

[…] heterogeneity and clinical variability.1 Recent data have indicated a high rate of de novo events in ID,2 suggesting that family-based exome sequencing can be an efficient tool for identifying genetic causes of ID and thus for probing its molecular etiology [ncbi.nlm.nih.gov]

Insurance type, geographic location, history of prematurity, prior seizures, developmental delay or regression, abnormal head circumference, hypsarrhythmia, and IS etiologies were associated with standard therapy. [pesquisa.bvsalud.org.2351565263.proxy.jingzhou.gov.cn]

Additionally, the occurrence of central hypogonadism, dwarfism, obesity, etc. of unknown etiology in certain POM Golgipathies could conceivably be due to deficits in neuroendocrine secretory activity controlling bodily hormonal homeostasis. [karger.com]

Seizures in patients with multiple sclerosis: epidemiology, pathophysiology and management. CNS Drugs. 2009;23(10):805–15. Article CAS PubMed Central Google Scholar Berg AT, Palac H, Wilkening G, Zelko F, Schust ML. [ojrd.biomedcentral.com]

Such an organelle-centric approach might eventually make it easier to understand the pathophysiology of these disorders. Acknowledgements We are grateful to Cécile Martel for invaluable support. [karger.com]

The pathophysiology of the PACS1 protein mutation, studied in vitro and in vivo, showed that this gene is essential for the formation of craniofacial structures, and its dysfunction leads to neural crest migration deficiency. [scielo.br]

Seizures in patients with multiple sclerosis: epidemiology, pathophysiology and management. CNS Drugs. 2009;23(10):805–15. Article CAS PubMed Central Google Scholar Berg AT, Palac H, Wilkening G, Zelko F, Schust ML. [ojrd.biomedcentral.com]

Participating in research helps researchers ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases. What Are Clinical Studies? Clinical studies are medical research involving people as participants. [rarediseases.info.nih.gov]

Treatment for PACS1 Syndrome depends on the signs and symptoms each person has, but may include medications to prevent seizures, and speech, physical, and occupational therapies. [pacs1smiles.org]

It might be possible to prevent the dominant negative “toxic” phenotype characteristic of PACS1 syndrome, which is presumably due to the mutated protein, by inhibiting its synthesis (antisense nucleotides) or its effect (small molecules). [ojrd.biomedcentral.com]

Vaccine type, side effects, preventative measures, and changes in seizure activity following COVID-19 vaccination were recorded. For unvaccinated individuals, caregivers were asked about intent to vaccinate and reasons for their decision. [pesquisa.bvsalud.org.2351565263.proxy.jingzhou.gov.cn]

This has clinical relevance due to the availability of drugs such as Caplacizumab, which inhibits vWF-platelet interaction, and Crizanlizumab, which, by inhibiting P-selectin binding to its ligands, prevents leukocyte recruitment and platelet aggregation [pesquisa.bvsalud.org]