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Benign Neonatal Convulsions

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The phenotypic spectrum of SCN2A-related epilepsy.

Claire Reynolds, Mary D King, Kathleen M Gorman,

Pathogenic variants in SCN2A are reported in a spectrum of neurodevelopmental disorders including developmental and epileptic encephalopathies, benign familial neonatal-infantile seizures, episodic ataxia, and autism spectrum disorder and intellectual disability with and without seizures. To date, more than 300 patients with SCN2A variants have been published, the majority presenting with ... Read more >>

Eur. J. Paediatr. Neurol. (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society)
[2020, 24:117-122]

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A reflection on the role of genetics in the concept of "epileptic encephalopathy", as emerged from the most recent ILEA classification of epilepsy.

Angelo Russo, Giuseppe Gobbi,

The International League Against Epilepsy (ILAE) has been working to standardize the epilepsy classifications for over a hundred years.The latest epilepsy classification has been recently carried out with a careful overview on several topics including the "epileptic encephalopathies" concept and several constructive discussions on this topic have taken place in ... Read more >>

Ital J Pediatr (Italian journal of pediatrics)
[2020, 46(1):2]

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The clinical and genetic spectrum in infants with (an) unprovoked cluster(s) of focal seizures.

Aalt van Roest, Anouk Van de Vel, Damien Lederer, Berten Ceulemans,

BACKGROUND:Self-limited (familial) infantile epilepsy (S(F)IE), formerly known as benign (familial) infantile convulsions (B(F)IC), is an infantile cluster epilepsy with in rule a complete recovery. This form of epilepsy is most often caused by variations in the PRRT2 gene (OMIM #605751). AIM:To describe the clinical and genetic spectrum of sudden onset ... Read more >>

Eur. J. Paediatr. Neurol. (European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society)
[2020, 24:148-153]

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A de novo KCNQ2 Gene Mutation Associated With Non-familial Early Onset Seizures: Case Report and Revision of Literature Data.

Gianluigi Laccetta, Simona Fiori, Matteo Giampietri, Annarita Ferrari, Valentina Cetica, Manuela Bernardini, Francesca Chesi, Sara Mazzotti, Elena Parrini, Massimiliano Ciantelli, Andrea Guzzetta, Paolo Ghirri,

Among neonatal epileptic syndromes, benign familial neonatal seizures (BFNS) are often due to autosomal-dominant mutations of the KCNQ2 gene. Seizures are usually characterized by asymmetric tonic posturing with apnea with onset in the first 7 days of life; they may even occur more than 10 times per day or evolve ... Read more >>

Front Pediatr (Frontiers in Pediatrics)
[2019, 7:348]

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Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy.

Ayako Goto, Atsushi Ishii, Mami Shibata, Yukiko Ihara, Edward C Cooper, Shinichi Hirose,

OBJECTIVE:Pathogenic variants of KCNQ2, which encode a potassium channel subunit, cause either benign (familial) neonatal epilepsy-B(F)NE)-or KCNQ2 encephalopathy (KCNQ2 DEE). We examined the characteristics of KCNQ2 variants. METHODS:KCNQ2 pathogenic variants were collected from in-house data and two large disease databases with their clinical phenotypes. Nonpathogenic KCNQ2 variants were collected from ... Read more >>

Epilepsia (Epilepsia)
[2019, 60(9):1870-1880]

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High Efficacy by GAL-021: A Known Intravenous Peripheral Chemoreceptor Modulator that Suppresses BKCa-Channel Activity and Inhibits IK(M) or Ih.

Te-Ling Lu, Zi-Han Gao, Shih-Wei Li, Sheng-Nan Wu,

: GAL-021 has recently been developed as a novel breathing control modulator. However, modifications of ionic currents produced by this agent remain uncertain, although its efficacy in suppressing the activity of big-conductance Ca2+-activated K+ (BKCa) channels has been reported. In pituitary tumor (GH3) cells, we found that the presence of ... Read more >>

Biomolecules (Biomolecules)
[2020, 10(2):]

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Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.

Se Song Jang, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Jong-Il Kim, Byung Chan Lim,

Purpose: We aimed to evaluate the diagnostic yield of epilepsy gene panel testing in epilepsy patients whose seizures began within the first year after birth. We included 112 patients with seizure onset before 12 months and no known etiology. Methods: Deep targeted sequencing with a custom-designed capture probe was performed ... Read more >>

Front Neurol (Frontiers in Neurology)
[2019, 10:988]

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Intellectual Disability in Two Brothers Caused by De Novo Novel Unbalanced Translocation (13;18) (q34,q23) and De Novo Microdeletion 6q25 Syndrome.

Amal M Alhashem, Manal S Almohaid, Lina Alanazi, Hedayah Alhabardi,

We report here two brothers with an intellectual disability (ID), dysmorphic features, speech delay, and congenital hypotonia, with chromosomal microarray confirmed. However, two different de novo chromosomal aberrations; unbalanced translocations (13;18) (q34,q23) were found in the elder boys and de novo 6q25 deletion in the second boy. The boy with 13q34 ... Read more >>

Cureus (Cureus)
[2020, 12(1):e6778]

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KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series.

Inn-Chi Lee, Tung-Ming Chang, Jao-Shwann Liang, Shuan-Yow Li,

BACKGROUND:Epilepsy caused by a KCNQ2 gene mutation usually manifests as neonatal seizures during the first week of life. The genotypes and phenotypes of KCNQ2 mutations are noteworthy. METHODS:The KCNQ2 sequencings done were selected from 131 nonconsanguineous pediatric epileptic patients (age range: 2 days to 18 years) with nonlesional epilepsy. RESULTS:Seven (5%) index ... Read more >>

Mol Genet Genomic Med (Molecular Genetics & Genomic Medicine)
[2019, 7(7):e00816]

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Report on advances for pediatricians in 2018: allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery.

Carlo Caffarelli, Francesca Santamaria, Carla Mastrorilli, Angelica Santoro, Brunella Iovane, Maddalena Petraroli, Valeria Gaeta, Rosita Di Pinto, Melissa Borrelli, Sergio Bernasconi, Giovanni Corsello,

This review reported notable advances in pediatrics that have been published in 2018. We have highlighted progresses in allergy, cardiology, critical care, endocrinology, hereditary metabolic diseases, gastroenterology, infectious diseases, neonatology, nutrition, respiratory tract disorders and surgery. Many studies have informed on epidemiologic observations. Promising outcomes in prevention, diagnosis and treatment ... Read more >>

Ital J Pediatr (Italian journal of pediatrics)
[2019, 45(1):126]

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Molecular epidemiology and clinical characteristics of norovirus gastroenteritis with seizures in children in Taiwan, 2006-2015.

Ying Fang Elaine Chen, Chuan Yu Wang, Cheng Hsun Chiu, Shu Sing Kong, Yi Jung Chang, Shih Yen Chen,

This study examined the characteristics of norovirus (NoV) gastroenteritis associated with convulsions in children and its molecular epidemiology. From July 2006 through December 2015, NoV infection was confirmed by the genome detection using reverse transcriptase polymerase chain reaction. Viral genotyping with strain validation was achieved using sequence analyses with Basic ... Read more >>

Medicine (Baltimore) (Medicine)
[2019, 98(40):e17269]

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Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy.

Ivana A Souza, Maria A Gandini, Fang-Xiong Zhang, Wendy G Mitchell, Joyce Matsumoto, Jason Lerner, Tyler Mark Pierson, Gerald W Zamponi,

Two paternally-inherited missense variants in CACNA1H were identified and characterized in a 6-year-old child with generalized epilepsy. Febrile and unprovoked seizures were present in this child. Both variants were expressed in cis or isolation using human recombinant Cav3.2 calcium channels in tsA-201 cells. Whole-cell patch-clamp recordings indicated that one variant ... Read more >>

Mol Brain (Molecular brain)
[2019, 12(1):86]

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Seasonal distribution of febrile seizure and the relationship with respiratory and enteric viruses in Korean children based on nationwide registry data.

Do Hoon Han, Su Yeong Kim, Na Mi Lee, Dae Yong Yi, Sin Weon Yun, In Seok Lim, Soo Ahn Chae,

PURPOSE:The seasonal distribution patterns of febrile seizures and of respiratory and enteric viral pathogens are similar. In this study, we analyzed trends in febrile seizures and viral infection in Korean children, using big data from the Korean Health Insurance Review and Assessment Service (HIRA). METHODS:We analyzed children younger than 6 ... Read more >>

Seizure (Seizure)
[2019, 73:9-13]

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Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: the importance of early diagnosis.

Wafa Kallali, Ewan Gray, Muhammad Zain Mehdi, Robert Lindsay, Louise A Metherell, Federica Buonocore, Jenifer P Suntharalingham, John C Achermann, Malcolm Donaldson,

Objective:CYP11A1 mutations cause P450 side-chain cleavage (scc) deficiency, a rare form of congenital adrenal hyperplasia with a wide clinical spectrum. We detail the phenotype and evolution in a male sibship identified by HaloPlex targeted capture array. Family study:The youngest of three brothers from a non-consanguineous Scottish family presented with hyperpigmentation ... Read more >>

Eur. J. Endocrinol. (European journal of endocrinology)
[2020, 182(3):K15-K24]

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Clinical features of campylobacter-associated benign convulsions with mild gastroenteritis compared with rotavirus convulsions.

Hui Chen, Jian Zha, Jian Min Zhong, Yong Chen, Xiong Ying Yu, Ji Hua Xie,

PURPOSE:The aim of the present study was to compare the clinical features of campylobacter-associated benign convulsions with mild gastroenteritis (BCWG) with rotavirus-associated BCWG in China. METHODS:The medical records of BCWG patients admitted to Children's Hospital of Jiangxi Province in China between January 2015 and January 2017 were reviewed in this ... Read more >>

Seizure (Seizure)
[2019, 70:20-24]

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Incidence, clinical profile, and risk factors for serious bacterial infections in children hospitalized with fever in Ujjain, India.

Ashish Pathak, Radika Upadhayay, Aditya Mathur, Sunil Rathi, Cecilia Stålsby Lundborg,

BACKGROUND:Fever is a cause for concern for both parents and the treating pediatrician and a common reason for antibiotic overuse. However, the proportion of children hospitalized for fever with serious bacterial infection (SBI) is uncertain. We aimed to evaluate the epidemiological, clinical, hematological, and biochemical risks for SBI among the ... Read more >>

BMC Infect. Dis. (BMC infectious diseases)
[2020, 20(1):162]

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Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review.

Shahad AlSaif, Muhammad Umair, Majid Alfadhel,

The voltage-gated sodium channel neuronal type 2 alpha subunit (Navα1.2) encoded by the SCN2A gene causes early infantile epileptic encephalopathy (EIEE) inherited in an autosomal dominant manner. Clinically, it has variable presentations, ranging from benign familial infantile seizures (BFIS) to severe EIEE. Diagnosis is achieved through molecular DNA testing of ... Read more >>

J Cent Nerv Syst Dis (Journal of central nervous system disease)
[2019, 11:1179573519849938]

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Serum α-synuclein and IL-1β are increased and correlated with measures of disease severity in children with epilepsy: potential prognostic biomarkers?

Jieun Choi, Soo Yeon Kim, Hunmin Kim, Byung Chan Lim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Sohee Oh, Eun Young Kim, Jeon-Soo Shin,

BACKGROUND:The search for noninvasive biomarkers of neuroinflammation and neurodegeneration has focused on various neurological disorders, including epilepsy. We sought to determine whether α-synuclein and cytokines are correlated with the degree of neuroinflammation and/or neurodegeneration in children with epilepsy and with acquired demyelinating disorders of the central nervous system (CNS), as ... Read more >>

BMC Neurol (BMC neurology)
[2020, 20(1):85]

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Clinical Implications of Ketosis in Children with Benign Convulsions with Mild Gastroenteritis.

Jeong Yong Lee, Jeong Min Ryu, Jong Seung Lee, Tae Sung Ko, Mi Sun Yum,

BACKGROUND AND PURPOSE:The pathophysiologic mechanisms underlying benign convulsions with mild gastroenteritis (CwG) in children remain unclear. We investigated the incidence of ketosis in CwG and whether this is related to seizures. METHODS:This retrospective study included children aged from 6 months to 6 years who visited our emergency department and were ... Read more >>

J Clin Neurol (Journal of clinical neurology (Seoul, Korea))
[2020, 16(1):96-101]

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Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.

Joseph D Symonds, Sameer M Zuberi, Kirsty Stewart, Ailsa McLellan, Mary O'Regan, Stewart MacLeod, Alice Jollands, Shelagh Joss, Martin Kirkpatrick, Andreas Brunklaus, Daniela T Pilz, Jay Shetty, Liam Dorris, Ishaq Abu-Arafeh, Jamie Andrew, Philip Brink, Mary Callaghan, Jamie Cruden, Louise A Diver, Christine Findlay, Sarah Gardiner, Rosemary Grattan, Bethan Lang, Jane MacDonnell, Jean McKnight, Calum A Morrison, Lesley Nairn, Meghan M Slean, Elma Stephen, Alan Webb, Angela Vincent, Margaret Wilson,

Epilepsy is common in early childhood. In this age group it is associated with high rates of therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number of genes, with wide ranging functions, are implicated in its aetiology, especially in those with therapy-resistant seizures. Identifying the more common single-gene ... Read more >>

Brain (Brain : a journal of neurology)
[2019, 142(8):2303-2318]

Cited: 2 times

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Etiology of neonatal seizures and maintenance therapy use: a 10-year retrospective study at Toulouse Children's hospital.

E Baudou, C Cances, C Dimeglio, C Hachon Lecamus,

BACKGROUND:No guidelines exist concerning the maintenance antiepileptic drug to use after neonatal seizures. Practices vary from one hospital to another. The aim of this study was to investigate etiologies and to report on the use of maintenance antiepileptic therapy in our population of full-term neonates presenting neonatal seizures. METHODS:From January ... Read more >>

BMC Pediatr (BMC pediatrics)
[2019, 19(1):136]

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Neuraxial labour analgesia is associated with a reduced risk of maternal depression at 2 years after childbirth: A multicentre, prospective, longitudinal study.

Zhi-Hua Liu, Shu-Ting He, Chun-Mei Deng, Ting Ding, Ming-Jun Xu, Lei Wang, Xue-Ying Li, Dong-Xin Wang,

BACKGROUND:Severe labour pain is an important risk factor of postpartum depression, and early depression is associated with an increased risk of long-term depression; whereas the use of epidural analgesia during labour decreases the risk of postpartum depression. OBJECTIVE:To investigate whether neuraxial labour analgesia was associated with a decreased risk of ... Read more >>

Eur J Anaesthesiol (European journal of anaesthesiology)
[2019, 36(10):745-754]

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PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia.

Akihisa Okumura, Keiko Shimojima, Hirokazu Kurahashi, Shingo Numoto, Shino Shimada, Atsushi Ishii, Iori Ohmori, Satoru Takahashi, Tomonari Awaya, Tetsuo Kubota, Takafumi Sakakibara, Naoko Ishihara, Ayako Hattori, Hiroyuki Torisu, Jun Tohyama, Takeshi Inoue, Akiko Haibara, Takuji Nishida, Yukihiro Yuhara, Kazushi Miya, Ryuta Tanaka, Shinichi Hirose, Toshiyuki Yamamoto,

PURPOSE:This study was performed to clarify the clinical features of Japanese patients with PRRT2 mutations. METHODS:The PRRT2 gene was analyzed in 135 patients with benign infantile epilepsy (BIE) or paroxysmal kinesigenic dyskinesia (PKD) using a direct sequencing method: 92 patients had BIE alone, 25 had both BIE and PKD, and ... Read more >>

Seizure (Seizure)
[2019, 71:1-5]

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Specific Varicella-Related Complications and Their Decrease in Hospitalized Children after the Introduction of General Varicella Vaccination: Results from a Multicenter Pediatric Hospital Surveillance Study in Bavaria (Germany).

Christine Hagemann, Alexander Krämer, Veit Grote, Johannes G Liese, Andrea Streng,

BACKGROUND:Universal varicella vaccination (UVV) for children introduced in Germany in 2004 resulted in a significant overall decline of varicella-related hospitalizations (VRHs). We investigated the incidence of specific types of varicella-related complications (VRCs) in hospitalized children and the impact of UVV on VRCs during the first 7 years of UVV. METHODS:Children < 17 years of ... Read more >>

Infect Dis Ther (Infectious diseases and therapy)
[2019, 8(4):597-611]

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Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E.

Gemma L Carvill,

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias Helbig KL, Lauerer RJ, Bahr JC, et al. Am J Hum Genet. 2019;104(3):562. Developmental and epileptic encephalopathies (DEEs) are severe neurodevelopmental disorders often beginning in infancy or early childhood that are characterized by intractable ... Read more >>

Epilepsy Curr (Epilepsy currents)
[2019, 19(3):199-201]

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