scholarly journals Manifestasi Oral Infeksi COVID-19

e-GIGI ◽  
2021 ◽  
Vol 9 (2) ◽  
pp. 256
Author(s):  
Yobel R. Woran ◽  
Lydia E. N. Tendean ◽  
Christy N. Mintjelungan
Keyword(s):  
Literature Review ◽  
Critical Appraisal ◽  
Case Reports ◽  
Nasal Congestion ◽  
Clinical Manifestations ◽  
Google Scholar ◽  
Oral Manifestations ◽  
Runny Nose ◽  
Dental Instruments ◽  
Patients Experience

Abstract: The COVID-19 outbreak is caused by SARS-CoV-2 that spread rapidly throughout the world. The most common clinical manifestations of COVID-19 are fever, fatigue, and dry cough. Some patients experience nasal congestion, runny nose, headache, conjunctivitis, sore throat, diarrhea, skin rash, loss of smell and taste. Oral manifestations of COVID-19 infection are also reported. Dentists are prone to cross-infections of several infectious diseases because they are often exposed to saliva and blood. These viruses are transmitted through inhalation of aerosols and droplets containing the viruses or direct contact with mucous membranes, oral fluids, dental instruments, and surfaces contaminated with the virus. This study was aimed to determine the oral manifestations of COVID-19 infection. This was a literature review study searching three databases, namely Pubmed, ClinicalKey and Google Scholar. The keywords used were oral AND manifestations AND COVID-19. Selection based on inclusion and exclusion criteria was carried out by critical appraisal. There were eight literatures in the form of case reports. The results showed that oral manifestations commonly found in patients with clinical COVID-19 were ulcers, petechiae, macules, and plaques with variations in quantity, color appearance, and localization. Lesions were found on the palate, tongue, labial mucosa, gingiva, lips, and oropharynx. In conclusion, oral manifestations could be found in clinical COVID-19 patients, however, it is not certain whether these manifestations are directly caused by SARS-CoV-2 or are as secondary manifestations.Keywords: oral manifestations; COVID-19 Abstrak: Wabah COVID-19 disebabkan oleh SARS-CoV-2 yang menyebar dengan cepat hingga ke seluruh dunia. Infeksi COVID-19 mempunyai manifestasi klinis paling umum seperti demam, rasa lelah, dan batuk kering. Beberapa pasien mengalami hidung tersumbat, pilek, nyeri kepala, konjungtivitis, sakit tenggorokan, diare, ruam kulit, hilang penciuman dan pengecapan. Bahkan terdapat laporan penemuan manifestasi oral pada infeksi COVID-19. Dokter gigi sebagai profesi yang rentan terjadi infeksi silang beberapa penyakit menular karena sering terpapar dengan saliva dan darah. Virus ini memungkinkan terjadinya penularan lewat terhirupnya aerosol dan droplet yang mengandung virus atau kontak langsung dengan membran mukosa, cairan mulut, instrumen kedokteran gigi dan permukaan yang terkontaminasi virus. Penelitian ini bertujuan untuk mengetahui manifestasi oral infeksi COVID-19. Jenis penelitian ialah suatu literature review dengan pencarian menggunakan tiga database yaitu Pubmed, ClinicalKey dan Google Scholar. Kata kunci yang digunakan yaitu oral AND manifestations AND COVID-19. Setelah seleksi berdasarkan kriteria inklusi dan ekslusi dilakukan critical appraisal dan didapatkan delapan literatur yang berupa laporan kasus.Hasil penelitian mendapatkan bahwa manifestasi oral pada pasien klinis COVID-19 yang sering ditemukan, seperti ulkus, petekie, makula, dan plak dengan variasi kuantitas, penampakan warna, dan lokalisasi. Lokasi lesi ditemukan pada palatum, lidah, mukosa labial, gingiva, bibir dan orofaring. Simpulan penelitian ini ialah manifestasi oral dapat ditemukan pada pasien klinis COVID-19 tetapi belum diketahui pasti apakah secara langsung disebabkan oleh SARS-CoV-2 atau merupakan manifestasi sekunder.Kata kunci: manifestasi oral; COVID-19

Acute Herpetic Nasopharyngitis in an Adult Patient: A Case Report and Literature Review

2022 ◽  
pp. 000348942110701
Author(s):  
Cathleen C. Kuo ◽  
Ellen M. Piccillo ◽  
Jason C. DeGiovanni ◽  
Matt Kabalan ◽  
Gregg Zimmer ◽  
...  
Keyword(s):  
Literature Review ◽  
Adult Patient ◽  
Soft Palate ◽  
Case Reports ◽  
Nasal Congestion ◽  
English Literature ◽  
Immunohistochemical Analysis ◽  
Anatomical Location ◽  
Posterior Aspect ◽  
Mesh Terms

Objective: To report a case of herpes virus-associated nasopharyngitis in an adult patient. Methods: The patient’s medical record was reviewed for demographic and clinical data. For literature review, all case reports or other publications published in English literature were identified using Pubmed with the MeSH terms “herpes,” “nasopharyngitis,” and “upper respiratory infection.” Results: A 40-year-old male presented for nasal congestion and a suspected nasal mass. Computed tomography of the sinuses revealed edematous changes in the nasopharynx which exerted a downward mass effect at the right aspect of the soft palate. Flexible fiberoptic laryngoscopy (FFL) revealed a lesion arising from the posterior aspect of the soft palate with extension into the posterior nasal cavity as well as copious mucopurulent secretions consistent with a superimposed acute sinusitis. Rigid nasal endoscopy demonstrated a friable and ulcerated lesion arising from the aforementioned anatomical location. Biopsy of this lesion and subsequent immunohistochemical analysis revealed a diagnosis of herpetic nasopharyngitis. Conclusions: Herpetic infection should be in the differential diagnosis of patients presenting with atypical symptoms of nasopharyngitis. Early accurate diagnosis and appropriate specific management can limit the duration of disease course and prevent further complications.

scholarly journals Symptomatic manifestations of the disease caused by coronavirus (COVID-19) in adults: systematic review

2021 ◽  
Vol 42 (spe) ◽  
Author(s):  
Antonio Rosa de Sousa Neto ◽  
Ana Raquel Batista de Carvalho ◽  
Erika Morganna Neves de Oliveira ◽  
Rosilane de Lima Brito Magalhães ◽  
Maria Eliete Batista Moura ◽  
...  
Keyword(s):  
Systematic Review ◽  
Abdominal Pain ◽  
Chest Pain ◽  
Web Of Science ◽  
Scientific Literature ◽  
Nasal Congestion ◽  
Research Question ◽  
Clinical Manifestations ◽  
Runny Nose ◽  
Cough Headache

ABSTRACT Objective To identify symptoms of COVID-19 in adults in the scientific literature. Method Systematic review of studies published from December 1, 2019 to April 21, 2020 from the Scopus, Web of Science and PubMed databases, in order to answer the following research question: “What are the symptoms caused by COVID-19 in adults?” using the keywords “Symptoms”, “Clinical Manifestations”, “Coronavirus”, “COVID-19”. Results Of the total 105 references, 13 references that addressed the symptoms of COVID-19 were selected. Fever and normal or dry cough were symptoms present in all studies. Conclusion The symptoms identified in adult patients were fever, normal or dry cough, headache, pharyngalgia, dyspnea, diarrhea, myalgia, vomiting, sputum or expectoration, anxiety or chest pain, fatigue, nausea, anorexia, abdominal pain, rhinorrhea, runny nose or nasal congestion, dizziness, chills, systemic pain, mental confusion, hemoptysis, asthma, taste disorder, smell disorder, belching and tachycardia.

scholarly journals Arthritis in children with LRBA deficiency – case report and literature review

2019 ◽  
Vol 17 (1) ◽  
Author(s):  
Rotem Semo Oz ◽  
Melissa S. Tesher
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Rheumatic Disease ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Immune Dysregulation ◽  
Joint Involvement ◽  
Female Ratio ◽  
Minimal Data ◽  
Lrba Deficiency

Abstract Background Lipopolysaccharide (LPS)-responsive and beige like anchor (LRBA) deficiency is categorized as a subtype of common variable immune deficiency (CVID). A growing number of case reports and cohorts reveal a broad spectrum of clinical manifestations and variable phenotype expression, including immune dysregulation, enteropathy and recurrent infections. The association between rheumatic disease and CVID generally has been well established, arthritis has been less frequently reported and minimal data regarding its clinical features and characteristic in LRBA deficiency has been published. This case report and literature review evaluates the characteristics and features of arthritis in LRBA deficiency patients. Case presentation and review results Herein, we describe a unique case of LRBA deficiency first presented with poly articular arthritis. Alongside the report, a literature review focusing on LRBA deficiency, rheumatic disease and arthritis has been conducted. We reviewed 43 publications. Among these, 7 patients were identified with arthritis. Age of first presentation was six weeks to 3 years. Male to female ratio was 4/3. Two patients were diagnosed with polyarticular Juvenile idiopathic arthritis (JIA) and three with oligoarticular JIA. Each patient was found to have different genomic mutation. The treatment was diverse and included corticosteroids, cyclosporine, methotrexate, adalidumab and abatacept. Conclusion Joint involvement is variable in LRBA deficiency, hence it should always be kept in mind as a differential diagnosis for a patient with combination of juvenile arthritis and clinically atypical immune dysregulation and / or immunodeficiency.

scholarly journals Lipoma of the cerebellopontine angle: case reports and literature review

1994 ◽  
Vol 52 (1) ◽  
pp. 58-63 ◽  
Author(s):  
Marcelo P. Ferreira ◽  
Nelson P. Ferreira ◽  
Rene Lenhardt
Keyword(s):  
Surgical Treatment ◽  
Literature Review ◽  
Cerebellopontine Angle ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Treatment Strategies ◽  
Diagnostic Methods ◽  
Surgical Indications ◽  
Complete Excision

Two patients with cerebellopontine angle (CPA) lipoma were studied. They were submitted to surgical treatment. Available literature was reviewed and 29 cases with same lesion were identified which had been treated by surgery. Clinical manifestations, possibility of diagnostic methods, surgical indications and treatment strategies are discussed. Attention is called to the peculiarities of CPA lipomas and the doubtful vality of attempting complete excision in all cases.

scholarly journals Model Pembelajaran Olahraga Renang Anak Usia Dini: Literature Review

2021 ◽  
Vol 7 (2) ◽  
pp. 300-308
Author(s):  
Asrori Yudha Prawira ◽  
Eko Prabowo ◽  
Fajar Febrianto
Keyword(s):  
Literature Review ◽  
Critical Appraisal ◽  
Research Data ◽  
Google Scholar ◽  
Library Research

Tujuan penelitian ini adalah memperoleh pengetahuan dan penemuan baru. Kedua sebagai pembuktian atau pengujian tentang kebenaran dari pengetahuan yang sudah ada dan yang ketiga untuk mengetahui pengembangan model Olahraga renang pada anak usia dini. Penelitian ini merupakan penelitan kepustakaan (library research). Data dalam penelitian ini adalah data sekunder. Metode pengumpulan data yang digunakan dalam penelitian ini adalah metode dokumentasi. Metode analisis yang digunakan menggunakan analisis isi artikel. Artikel penelitian yang sesuai dengan kriteria kemudian dikumpulkan dan dibuat ringkasan jurnal meliputi nama peneliti, tahun terbit jurnal, rancangan studi, tujuan penelitian, sampel, instrument (alat ukur) dan ringkasan hasil atau temuan. Terdapat 10 literatur yang membahas tentang model pembelajaran renang pada anak usia dini, semua jurnal tersebut adalah jurnal nasional yang dilakukan pencarian diportal google scholar dengan mengetik kata kunci “model pembelajaran renang” yang kemudian dianalisis menggunakan analisis critical appraisal untuk menganalisis dari inti jurnal, hasil studi sehingga mengetahui persamaan dan perbedaan dari jurnal-jurnal tersebut. Dari 10 jurnal tersebut ada 5 jurnal tidak dilakukan pemeriksaan permainan renang secara langsung ada yang membahas motoric kasar , permainan modifikasi dan kemampuan. Beberapa hal penting yang didapat dari beberapa jurnal diantaranya identifikasi metode pembelajaran Olahraga renang anak usia dini dengan menjabarkan metode yang efektif dari beberapa penelitian terkait secara runtut agat dapat dijadikan sebagai sebuah acuan pembelajaran olahraga Olahraga renang anak usia dini. Kedua, model pembelajaran Olahraga renang pada anak usia dini dapat meningkatkan semangat dan mencegah kebosanan pada anak usia dini. Ketiga, memberikan pengaruh yang positif terhadap kemampuan motorik kasar dan kognitif anak usia dini serta proses pembelajaran lebih menyenangkan dan partisipatif.

scholarly journals Pengaruh Kebiasaan Merokok terhadap Pembentukan Stain pada Gigi

e-GIGI ◽  
2021 ◽  
Vol 9 (2) ◽  
pp. 223
Author(s):  
Serena D. V. Dondokambey ◽  
Damajanty H. C. Pangemanan ◽  
Johanna A. Khoman
Keyword(s):  
Literature Review ◽  
Critical Appraisal ◽  
Google Scholar ◽  
Smoking Habits ◽  
Almost Everywhere

Abstract: Smoking is a bad habit that has become a necessity of life for some people. Moreover, smoking is found almost everywhere regardless of age, gender, and occupation. One of the consequences of smoking is the formation of stain on the teeth. This study was aimed to obtain the effect of smoking on the formation of stain on teeth. This was a literature review using various databases, such as Google Scholar, PubMed, and Wiley. The most frequent smoking frequency found was light smokers with the number of cigarettes smoked 1-4 cigarettes per day. All literatures showed that more stain formation occurred than no stain formation. Based on the frequency of smoking, the formation of stain on the teeth was most common in smokers with light category. In conclusion, smoking habits can affect the formation of stain on teeth. Based on the frequency of smoking the formation of stain on teeth is most commonly found in light-category smokers.Keywords: smoke; stain; discoloration  Abstrak: Merokok merupakan salah satu kebiasaan buruk yang sudah menjadi kebutuhan hidup oleh sebagian orang. Selain itu, merokok banyak ditemukan tanpa memandang usia, jenis kelamin, dan pekerjaan. Salah satu akibat dari kebiasaan merokok yaitu terjadinya pembentukan stain pada gigi. Penelitian ini bertujuan untuk mengetahui pengaruh kebiasaan merokok terhadap pembentukan stain pada gigi. Jenis penelitian ialah suatu literature review menggunakan database Google Scholar, PubMed, dan Wiley dengan topik terkait. Terdapat tujuh literatur yang memenuhi kriteria inklusi dan eksklusi serta telah melewati tahap penilaian jurnal menggunakan instrumen critical appraisal. Hasil penelitian mendapatkan frekuensi merokok yang paling banyak ditemukan ialah perokok kategori ringan dengan jumlah rokok yang dihisap 1-4 batang per hari. Pembentukan stain gigi secara keseluruhan pada semua literatur menunjukkan bahwa lebih banyak terjadinya pembentukan stain dibandingkan dengan yang tidak terjadi pembentukan stain. Berdasarkan frekuensi merokok, pembentukan stain pada gigi paling banyak terjadi pada perokok dengan kategori ringan. Simpulan penelitian ini ialah kebiasaan merokok dapat berpengaruh terhadap pembentukan stain pada gigi. Berdasarkan frekuensi merokok pembentukan stain pada gigi paling banyak ditemukan pada perokok dengan kategori ringan.Kata kunci: merokok; stain; pewarnaan gigi

scholarly journals SARS-Cov-2: Epidemiological characteristics, clinical characteristics, diagnosis and prevention: A review of current knowledge

2021 ◽  
Vol 2 (2) ◽  
pp. 16-22
Author(s):  
Marina Fišeković-Kremić ◽  
Snežana Stojanović-Ristić
Keyword(s):  
Clinical Manifestation ◽  
Clinical Characteristics ◽  
Current Knowledge ◽  
Nasal Congestion ◽  
Clinical Manifestations ◽  
Diagnostic Procedures ◽  
X Rays ◽  
Runny Nose ◽  
Biochemical Analyses ◽  
Epidemiological Characteristics

The SARS-Cov-2 disease appeared in December 2019, when the new coronavirus was confirmed to be the cause of the disease. The objective of this article is to summarize previous research on the epidemiological characteristics, etiology, clinical characteristics, diagnosis, prevention, and control of the new SARS-Cov-2 infection. The SARS-Cov-2 virus belongs to the group of betacoronaviruses, which are single-stranded RNA viruses. The envelope has a crucial role in the pathogenicity of the virus. A viral infection can cause an excessive immune response in the patient, which is labeled as a "cytokine storm," and whose effect is extensive tissue damage. Three main routes of the transmission of the virus are: droplets, direct contact, aerosol. The incubation period is considered to be 1-14 days. The clinical manifestation ranges from asymptomatic, mild, to severe, and some cases end in death. The main clinical manifestations include fever, cough, and shortness of breath. Nasal congestion, a runny nose, a sore throat, headache, myalgia, diarrhea, loss of the sense of taste and/or smell have also been reported. The diagnostic procedures are the following: clinical manifestation, chest X-rays, biochemical analyses, epidemiological anamnesis. A positive nasopharyngeal or oropharyngeal swab (Ag test, and/or reverse transcription polymerase chain reaction (RT-PCR)) is used for etiological diagnosis. The SARS-Cov-2 infection has affected a large number of people and countries around the world. The application of preventive measures, early identification of infected persons, their isolation , and vaccination are currently the most effective mode in the battle against this virus. After the conclusion of the pandemic, it will be possible to estimate the health, social and economic impact of the virus.

scholarly journals Diagnosis Akut Abdomen akibat Peritonitis

e-CliniC ◽  
2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Amalita Mannana ◽  
Stephanus J. Ch. Tangel ◽  
Eko Prasetyo
Keyword(s):  
Literature Review ◽  
Ct Scan ◽  
Abdominal Cavity ◽  
Clinical Manifestations ◽  
Secondary Peritonitis ◽  
Diagnostic Methods ◽  
Google Scholar ◽  
Clinical Impression ◽  
Abdominal Ultrasonography ◽  
Rebound Tenderness

Abstract: Peritonitis is defined as inflammation of serosal membrane that lines the abdominal cavity (peritoneum) and the organs contained therein. Secondary peritonitis accounts for 1% of urgent emergent hospital admidssions and is the second leading cause of sepsis in patients in intensive care units globally. Despite the growth in the availability of imaging and laboratory test, the rapid diagnosis of peritonitis remains a challenge for physicians in emergency medicine, surgery, and critical care. This study was aimed to obtain the rapid and appropriate diagnostic methods of secondary peritonitis. This was a literature review study using databases of PubMed, ClinicalKey, and Google Scholar on topics related to the diagnosis of secondary peritonitis. The results showed that there were 12 literatures in this study consisting of 5 review articles, 1 literature review, and 6 prospective studies. The literatures reviewed the diagnosis of secondary peritonitis based on clinical manifestations, physical examination, and the other examinations including laboratory examination, abdominal ultrasound, and abdominal CT scan. In conclusion, the diagnosis of secondary peritonitis is based on clinical manifestation including abdominal pain, rigidity, and rebound tenderness. These sign and symptoms may be supported by laboratory and radiology findings as additional tests if needed. Abdominal ultrasonography is the most practical and non-invasive radiology test for rapid diagnostic in a subgroup of patients with secondary peritonitis whose clinical impression is unclear.                            Keywords: Secondary Peritonitis, Diagnosis of Secondary Peritonitis, Acute Abdomen Abstrak: Peritonitis adalah inflamasi pada selaput serosa yang membungkus rongga abdomen (peritoneum) dan organ yang terkandung di dalamnya. Peritonitis sekunder menyumbang 1% insiden pada pasien yang masuk di UGD dan merupakan penyebab utama kedua terjadinya sepsis pada pasien di ICU secara global. Di tengah perkembangan ketersediaan pemeriksaan radiologi dan laboratorium yang pesat, diagnosis yang cepat pada peritonitis masih menjadi tantangan bagi para dokter dalam penanganan darurat, pembedahan, dan perawatan pasien kritis. Penelitian ini bertujuan untuk mengetahui metode diagnosis yang cepat dan tepat pada peritonitis sekunder. Jenis penelitian ialah literature review menggunakan database PubMed, ClinicalKey, dan Google Scholar. Hasil penelitian mendapatkan 12 literatur terdiri dari 5 review article, 1 literature review, dan 6 prospective study yang mengulas tentang diagnosis peritonitis sekunder ditegakkan berdasarkan manifestasi klinis, pemeriksaan fisik, dan berbagai pemeriksaan penunjang lainnya yang mencakup pemeriksaan laboratorium, USG abdomen, dan CT scan abdomen. Simpulan penelitian ini ialah diagnosis peritonitis sekunder ditegakkan berdasarkan manifestasi klinis seperti nyeri abdomen, rigiditas, dan rebound tenderness. Tanda dan gejala ini dapat didukung oleh temuan radiologi dan laboratorium sebagai pemeriksaan tambahan bila diperlukan. USG abdomen merupakan pemeriksaan radiologi yang paling praktis dan non-invasif untuk diagnosis cepat pada kelompok pasien peritonitis sekunder dengan kesan klinis yang tidak jelas.Kata kunci: peritonitis sekunder, diagnosis peritonitis sekunder, akut abdomen

scholarly journals A novel diagnostic model based on differences in clinical characteristics of influenza A and B

2021 ◽  
Author(s):  
Xiang WeiPeng ◽  
Che Li ◽  
Zhang Miao ◽  
Gao WuTong ◽  
Tian Tian ◽  
...  
Keyword(s):  
Influenza A ◽  
Clinical Characteristics ◽  
Nasal Congestion ◽  
Clinical Manifestations ◽  
Influenza B ◽  
Diagnostic Model ◽  
Lasso Regression ◽  
Laboratory Findings ◽  
Runny Nose ◽  
The Impact

The aim of this study is to construct a clinical distinction model to help determine the type of influenza by analyzing the clinical characteristics and hematological indicators of influenza patients during the influenza season. Demographic characteristics and clinical data of 726 influenza patients aged 7 years and older from September 2018 to July 2019 were collected, and logistic regression analysis was used to analyze the impact of different clinical manifestations and hematological examination indicators on the determination of the value of the flu type. The common clinical manifestations of influenza patients were fever (99.2%), pharyngeal congestion (97.1%), cough (80.4%), sore throat (57.2%), muscle aches (48.8%), and runny nose (45.2%). Those with onset of illness were 19-49 years of age (OR= 0.335, 95% CI: 0.196-0.573), nasal congestion (OR= 0.566, 95% CI: 0.349-0.919), and fever for more than 3 days (OR= 0.368, 95% CI: 0.214-0.632) tend to diagnosed as influenza B, while those with symptoms of cough (OR=2.119, 95% CI: 1.322-3.389), headache (OR=1.834, 95% CI: 1.157-2.908), muscle pain (OR=1.811, 95% CI: 1.139-2.880), and blood CPR>8mg/L (OR=2.315, 95%CI: 1.501-3.589) and the percentage of neutrophils >70% (OR=2.361, 95%CI: 1.171-4.759) are prone to have influenza A. Combining clinical manifestations and laboratory findings, we plotted a nomogram by lasso regression. The distinction model was discriminated using a C-index（0.765,95% CI 0.716-0.819) and an AUC value (0.772,95% CI 0.696-0.848), showing good prognostic accuracy and clinical applicability. This distinction model can distinguish well between the types of influenza,which can provide assistance in early treatment and prognosis of influenza.

scholarly journals Phenotypic and Genotypic Characterization of NPRL2-Related Epilepsy: Two Case Reports and Literature Review

2021 ◽  
Vol 12 ◽  
Author(s):  
Yulin Sun ◽  
Lin Wan ◽  
Huimin Yan ◽  
Zhichao Li ◽  
Guang Yang
Keyword(s):  
Literature Review ◽  
Frameshift Mutation ◽  
Focal Epilepsy ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Pathogenic Variants ◽  
Treatment Processes ◽  
Generation Sequencing

The phenotype of nitrogen permease regulator-like 2 (NPRL2) gene-related epilepsy clinically manifests as a range of epilepsy syndromes, including familial focal epilepsy with variable foci (FFEVF), sleep-related hypermotor epilepsy (SHE), temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and infantile spasms (IS). The association between phenotype and genotype of NPRL2 variants has not been widely explored. This study aimed to explore the phenotype and genotype spectrum of NPRL2-related epilepsy. Here, we presented two clinical cases with NPRL2-related epilepsy, and discussed the characteristics, diagnosis, and treatment processes in the context of existing literature. Two novel NPRL2 likely pathogenic variants were identified by next-generation sequencing, including one splicing mutation (c.933-1G>A), and one frameshift mutation (c.257delG). The results of literature review showed that there were a total of 20 patients with NPRL2-related epilepsy whose mutations were mostly missense and hereditary. These findings indicate that the possibility of NPRL2 gene mutations in focal epilepsy should be considered for patients with family history, and that patients carrying different NPRL2 variants have different clinical manifestations. Our study expanded the genotype spectrum of NPRL2 and suggested that the type of NPRL2 variants might provide important information for the prognosis evaluation.

Sign in / Sign up

Export Citation Format

Share Document