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Zh Nevrol Psikhiatr Im S S Korsakova 2022 ;122(5):128-131

National Medical Research Center of Children's Health, Moscow, Russia.

A clinical case of a patient with neonatal epilepsy at the age of 5 months, with impaired bone formation, early osteoporosis and frequent limb fractures is described. Panel sequencing confirmed by Sanger sequencing revealed two independent hereditary diseases - osteogenesis imperfect type 1, associated with a mutation in the gene (c.2010delT) and benign non-familial infantile seizures associated with a mutation in the gene (c. Read More

Front Pediatr 2022 21;10:858945. Epub 2022 Apr 21.

Unit of Rare Diseases of the Nervous System in Childhood, Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, University of Catania, AOU "Policlinico", PO "G. Rodolico", Catania, Italy.

In addition to central nervous system infections, seizures and fever may occur together in several neurological disorders. Formerly, based on the clinical features and prognostic evolution, the co-association of seizure and fever included classical febrile seizures (FS) divided into simple, complex, and prolonged FS (also called febrile status epilepticus). Later, this group of disorders has been progressively indicated, with a more inclusive term, as "fever-associated seizures or epilepsy" (FASE) that encompasses: (a) FS divided into simple, complex, and prolonged FS; (b) FS plus; (c) severe myoclonic epilepsy in infancy (Dravet syndrome); (d) genetic epilepsy with FS plus; and (e) febrile infection-related epilepsy syndrome (FIRES). Read More

Front Mol Neurosci 2022 30;15:809951. Epub 2022 Mar 30.

Department of Pediatrics, Peking University First Hospital, Beijing, China.

Objective: The aim of this study was to analyze the phenotypic spectrum, treatment, and prognosis of 72 Chinese children with variants.

Methods: The variants were detected by next-generation sequencing. All patients were followed up at a pediatric neurology clinic in our hospital or by telephone. Read More

Front Neurol 2022 25;13:826225. Epub 2022 Mar 25.

Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi", Unit of Child Neurology and Psychiatry, University of Messina, Messina, Italy.

Potassium Voltage-Gated Channel Subfamily Q Member 2 (KCNQ2) gene has been initially associated with "Benign familial neonatal epilepsy" (BFNE). Amounting evidence arising by next-generation sequencing techniques have led to the definition of new phenotypes, such as neonatal epileptic encephalopathy (NEE), expanding the spectrum of KCNQ2-related epilepsies. Pyridoxine (PN) dependent epilepsies (PDE) are a heterogeneous group of autosomal recessive disorders associated with neonatal-onset seizures responsive to treatment with vitamin B6 (VitB6). Read More

J Child Neurol 2022 Apr 6:8830738221089741. Epub 2022 Apr 6.

Department of Pediatrics, 12306The Ohio State University, Columbus, OH, USA.

Background And Purpose: Mutations in have classically been associated with benign familial neonatal and infantile seizures and more recently identified in patients with neurodevelopmental disorders and abnormal electroencephalogram (EEG) findings. We present 4 affected patients from a family with a pathogenic mutation in with a unique constellation of clinical findings.

Methods: A family of 3 affected siblings and mother sharing a pathogenic variant are described, including clinical history, genetic results, and EEG and magnetic resonance imaging (MRI) findings. Read More

Cells 2022 03 5;11(5). Epub 2022 Mar 5.

Genetics Laboratory and Department of Biomedical Sciences, Chung Shan Medical University, Taichung 40201, Taiwan.

mutations can cause benign familial neonatal convulsions (BFNCs), epileptic encephalopathy (EE), and mild-to-profound neurodevelopmental disabilities. Mutations in the selectivity filter (SF) are critical to neurodevelopmental outcomes. Three patients with neonatal EE carry de novo heterozygous p. Read More

Neurol India 2022 Jan-Feb;70(1):312-314

Department of Pediatrics, Child Neurology Division, All India Institute of Medical Sciences, New Delhi, India.

Hyperekplexia, an underdiagnosed motor paroxysm of infancy, mimics epilepsy closely. It is hallmarked by episodic and excessive startle response, brief episodes of intense, generalized hypertonia, or stiffness in response to unexpected auditory and/or tactile stimuli right from birth. Though a seemingly benign entity with an excellent prognosis, hyperekplexia has been occasionally associated with recurrent apneas, feeding difficulties, and sudden infant death syndrome (SIDS). Read More

Clin Chim Acta 2022 May 3;530:74-80. Epub 2022 Mar 3.

Clinical Research Center for Children Neurodevelopmental disabilities of Hunan Province, Changsha 410008, China. Electronic address:

Background: Heterozygous variants of KCNQ2 can cause KCNQ2 associated neurodevelopmental disorder, mainly are benign (familial) neonatal or infantile epilepsy (B(F)NE or B(F)IE) and developmental epileptic encephalopathy(DEE). Moreover, some intermediate phenotypes, including intellectual disability (ID), and myokymia are related to the gene.

Methods: We collected a non-syndromic ID male patient with a novel KCNQ2 missense variant. Read More

Neuropediatrics 2022 Mar 2. Epub 2022 Mar 2.

Department of Pediatrics, Gyeongsang National Institute of Health Sciences, Gyeongsang National University College of Medicine, Jinju, Korea.

Rotavirus infection has been reported to be associated with neonatal seizures with a diffuse and symmetrical diffusion restriction of periventricular white matter, namely, neonatal rotavirus-associated leukoencephalopathy. The extensive white matter injury seen in this cohort raises concerns about the long-term neurodevelopmental outcomes. In the present study, we prospectively assessed the neurodevelopmental outcomes of 13 patients with neonatal rotavirus-associated leukoencephalopathy at a median age of 26 months (range, 23-68 months). Read More

Clin Exp Pediatr 2022 Feb 7. Epub 2022 Feb 7.

Department of Pediatrics, Biomedical Research Center, Ulsan University Hospital, University of Ulsan College of Medicine, Ulsan, Korea.

Despite the introduction of vaccines in 2006, rotavirus remains one of the most common causes of pediatric gastroenteritis worldwide. While many studies have conclusively shown that rotavirus infection causes gastroenteritis and is associated with various extra-intestinal manifestations including central nervous system (CNS) complications, extra-intestinal manifestations due to rotavirus infection have been relatively overlooked. Rotavirus infection-associated CNS complications are common in children and present with diverse clinicoradiological features. Read More

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2022 Feb;39(2):198-201

Department of Neonatology, Xuancheng Central Hospital, Xuancheng, Anhui 242099, China.

Objective: To analyze the clinical phenotype and genetic variant in a Chinese pedigree affected with benign familial neonatal convulsion (BFNC).

Methods: Clinical data and peripheral blood samples of the pedigree were obtained with informed consent. Whole exome sequencing (WES) was carried out for the proband. Read More

Brain Sci 2021 Dec 24;12(1). Epub 2021 Dec 24.

Clinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, LC, Italy.

Pathogenic variants of the gene (MIM 182390) are associated with several epileptic syndromes ranging from benign familial neonatal-infantile seizures (BFNIS) to early infantile epileptic encephalopathy. The aim of this work was to describe clinical features among five patients with concomitant gene variants and cryptogenic epileptic syndromes, thus expanding the spectrum of phenotypic heterogeneity. variants were identified in four patients, while one inherited variant was identified in a patient with an unaffected carrier biological father with somatic mosaicism. Read More

Zhonghua Er Ke Za Zhi 2022 Jan;60(1):51-55

Department of Pediatrics, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou 450002, China.

To explore the clinical manifestations and genetic characteristics of patients with epilepsy and episodic ataxia caused by SCN2A gene variation. The clinical data of seizure manifestation, imaging examination and genetic results of 5 patients with epilepsy and (or) episodic ataxia because of SCN2A gene variation admitted to the Department of Pediatrics, the Third Affiliated Hospital of Zhengzhou University from July 2017 to January 2021 were analyzed retrospectively. Among 5 patients, 4 were female and 1 was male. Read More

Front Mol Neurosci 2021 26;14:798261. Epub 2021 Nov 26.

Departamento de Ciencias Medicas Basicas and Instituto de Tecnologias Biomedicas, Universidad de La Laguna, San Cristóbal de La Laguna, Spain.

In the central nervous system, the M-current plays a critical role in regulating subthreshold electrical excitability of neurons, determining their firing properties and responsiveness to synaptic input. The M-channel is mainly formed by subunits Kv7.2 and Kv7. Read More

Front Med 2021 Dec 26;15(6):877-886. Epub 2021 Nov 26.

Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, 310009, China.

Proline-rich transmembrane protein 2 (PRRT2) is the leading cause of paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), and infantile convulsions with choreoathetosis (ICCA). Reduced penetrance of PRRT2 has been observed in previous studies, whereas the exact penetrance has not been evaluated well. The objective of this study was to estimate the penetrance of PRRT2 and determine its influencing factors. Read More

BMC Pediatr 2021 10 28;21(1):477. Epub 2021 Oct 28.

Department of Neurology, Children's Hospital of Fudan University, National Children's Medical Center, NO.399 Wanyuan Road, Minhang District, Shanghai, 201102, China.

Background: The clinical features of KCNQ2-related disorders range from benign familial neonatal seizures 1 to early infantile epileptic encephalopathy 7. The genotype-phenotypic association is difficult to establish.

Objective: To explore potential factors in neonatal period that can predict the prognosis of neonates with KCNQ2-related disorder. Read More

Brain Sci 2021 Sep 29;11(10). Epub 2021 Sep 29.

Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age "Gaetano Barresi", University of Messina, 98125 Messina, Italy.

Seizures are the most frequent neurological clinical symptoms of the central nervous system (CNS) during the neonatal period. Neonatal seizures may be ascribed to an acute event or symptomatic conditions determined by genetic, metabolic or structural causes, outlining the so-called 'Neonatal Epilepsies'. To date, three main groups of neonatal epilepsies are recognised during the neonatal period: benign familial neonatal epilepsy (BFNE), early myoclonic encephalopathy (EME) and 'Ohtahara syndrome' (OS). Read More

Zhonghua Er Ke Za Zhi 2021 Sep;59(9):767-771

Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.

To summarize the genotypes and clinical features of neonatal-onset genetic epilepsy. Patients (114 cases) with identified gene variants were collected from May 2013 to May 2019 in Peking University First Hospital, retrospectively. The genotype, clinical, electroencephalographic and neuroimaging characteristics were analyzed. Read More

Pediatr Int 2022 Jan 7;64(1):e14681. Epub 2021 Sep 7.

Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, Shinjuku-ku, Tokyo, Japan.

Genes (Basel) 2021 07 8;12(7). Epub 2021 Jul 8.

Department of Regional Health Research, University of Southern Denmark, DK-5230 Odense, Denmark.

The high pace of gene discovery has resulted in thrilling advances in the field of epilepsy genetics. Clinical testing with comprehensive gene panels, exomes, or genomes are now increasingly available and have led to a significant higher diagnostic yield in early-onset epilepsies and enabled precision medicine approaches. These have been instrumental in providing insights into the pathophysiology of both early-onset benign and self-limited syndromes and devastating developmental and epileptic encephalopathies (DEEs). Read More

Ugeskr Laeger 2021 07;183(29)

This is a case report of a patient, who was diagnosed with epilepsy (atypical infantile convulsions) at the age of one year and unspecific myopathy at the age of three years. At the age of 25 years, the patient was referred to a neuromuscular clinic due to myopathy, but the diagnose was changed to atypical infantile convulsions with seizures in adulthood and paroxysmal choreoathetosis due to a pathogenic variant c.970G>A, p. Read More

Front Neurol 2021 19;12:653517. Epub 2021 May 19.

Pediatric Department, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Nav1.2 encoded by the gene is a brain-expressed voltage-gated sodium channel known to be associated with neurodevelopment disorders ranging from benign familial neonatal infantile seizures (BFIS) to developmental and epileptic encephalopathy (DEE) and autism spectrum disorder. Interestingly, status epilepticus during slow sleep (ESES), which aggravates cognitive impairment, has been found in -related epilepsy. Read More

J Am Coll Radiol 2021 May;18(5S):S199-S211

Specialty Chair, Riley Hospital for Children Indiana University, Indianapolis, Indiana.

In children, seizures represent an extremely heterogeneous group of medical conditions ranging from benign cases, such as a simple febrile seizure, to life-threatening situations, such as status epilepticus. Underlying causes of seizures also represent a wide range of pathologies from idiopathic cases, usually genetic, to a variety of acute and chronic intracranial or systemic abnormalities. This document discusses appropriate utilization of neuroimaging tests in a child with seizures. Read More

Semin Pediatr Neurol 2021 04 4;37:100880. Epub 2021 Mar 4.

Department of Pediatrics, Baylor College of Medicine, San Antonio, TX; The Children's Hospital of San Antonio, San Antonio, TX.

The majority of neonatal seizures are related to common diagnoses, including hypoxic-ischemic encephalopathy and intraventricular hemorrhage. While relatively uncommon, neonatal epileptic encephalopathies represent an important group of neonatal seizure disorders that require immediate diagnosis and intervention. In this review, we provide a summary of the benign and severe neonatal epilepsy syndromes. Read More

Dev Neurosci 2021 1;43(3-4):191-200. Epub 2021 Apr 1.

Department of Physiology and Neurobiology, University of Connecticut, Storrs, Connecticut, USA.

KCNQ2 and KCNQ3 pathogenic channel variants have been associated with a spectrum of developmentally regulated diseases that vary in age of onset, severity, and whether it is transient (i.e., benign familial neonatal seizures) or long-lasting (i. Read More

Pediatr Neurol 2021 05 27;118:48-54. Epub 2021 Jan 27.

Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, Ohio.

Background: Variants in KCNQ2 and KCNQ3 may cause benign neonatal familial seizures and early infantile epileptic encephalopathy. Previous reports suggest that in silico models cannot predict pathogenicity accurately enough for clinical use. Here we sought to establish a model to accurately predict the pathogenicity of KCNQ2 and KCNQ3 missense variants based on available in silico prediction models. Read More

Am J Med Genet A 2021 06 23;185(6):1803-1815. Epub 2021 Mar 23.

Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Institut de Génétique Médicale d'Alsace, Strasbourg, France.

High-throughput sequencing (HTS) improved the molecular diagnosis in individuals with intellectual deficiency (ID) and helped to broaden the phenotype of previously known disease-causing genes. We report herein four unrelated patients with isolated ID, carriers of a likely pathogenic variant in KCNQ2, a gene usually implicated in benign familial neonatal seizures (BFNS) or early onset epileptic encephalopathy (EOEE). Patients were diagnosed by targeted HTS or exome sequencing. Read More

Epilepsia 2021 03 1;62(3):615-628. Epub 2021 Feb 1.

Paediatric Neurosciences Research Group, Royal Hospital for Children & Institute of Health & Wellbeing, University of Glasgow, Glasgow, UK.

Seizures are the most common neurological emergency in the neonatal period and in contrast to those in infancy and childhood, are often provoked seizures with an acute cause and may be electrographic-only. Hence, neonatal seizures may not fit easily into classification schemes for seizures and epilepsies primarily developed for older children and adults. A Neonatal Seizures Task Force was established by the International League Against Epilepsy (ILAE) to develop a modification of the 2017 ILAE Classification of Seizures and Epilepsies, relevant to neonates. Read More

Epileptic Disord 2020 Dec;22(6):807-810

Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.

Benign familial infantile epilepsy (BFIE) is the most genetically heterogeneous phenotype among early-onset familial infantile epilepsies. It has an autosomal dominant inheritance pattern with incomplete penetrance. Although PRRT2 is the most mutated gene detected in families with BFIE, other mutations in KCNQ2, SCN2A, and GABRA6 genes have also been described. Read More