Search Our Scientific Publications & Authors

Mol Med 2019 02 27;25(1). Epub 2019 Feb 27.

Institute of Medical Genetics, University of Zurich, 8952, Schlieren, Zurich, Switzerland.

Background: Deleterious variants in the voltage-gated sodium channel type 2 (Na1.2) lead to a broad spectrum of phenotypes ranging from benign familial neonatal-infantile epilepsy (BFNIE), severe developmental and epileptic encephalopathy (DEE) and intellectual disability (ID) to autism spectrum disorders (ASD). Yet, the underlying mechanisms are still incompletely understood. Read More

Medicine (Baltimore) 2019 Feb;98(8):e14698

Department of Neurology, First Affiliated Hospital, Guangxi Medical University, Nanning, Guangxi, China.

Rationale: The phenotypic spectrum caused by SCN2A mutations includes benign neonatal/infantile seizures, Ohtahara syndrome, infantile spasms, West syndrome, and other unclassified epileptic phenotypes. Mutations in SCN2A have been implicated in neonatal seizure cases. Here, we described a Chinese family with 2 members having juvenile-onset myoclonus and identified a novel SCN2A point mutation within this family. Read More

Epileptic Disord 2019 Feb;21(1):87-91

Department of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro," University of Palermo, Palermo.

Benign familial neonatal epilepsy (BFNE) is caused, in about 5% of families, by mutations in the KCNQ3 gene encoding voltage-gated potassium channel subunits. Usually, newborns with BFNE show a normal neurological outcome, but recently, refractory seizures and/or developmental disability have been reported suggesting phenotype variability associated with KCNQ3-related BFNE. Here, we describe a proband from a BFNE family carrying a novel variant in the KCNQ3 gene. Read More

Dev Med Child Neurol 2019 Jan 25. Epub 2019 Jan 25.

Inserm U1129, Infantile Epilepsies and Brain Plasticity, CEA Gif/Yvette, Pôle de Recherche et d'Enseignement Supérieur Sorbonne Paris Cité, Paris Descartes University, Paris, France.

The aim of this study was to disentangle mechanisms of epileptogenesis in monogenic epilepsies in children. We reviewed paediatric monogenic epilepsies excluding brain malformation or an inborn error of metabolism, but including the gene function whether there is loss-of-function or gain-of-function, age at gene expression when available, and associated epilepsy syndrome. Genes for which at least five patients with similar epilepsy phenotype had been reported were selected. Read More

Brain Dev 2019 Apr 8;41(4):389-391. Epub 2018 Nov 8.

Department of Nutrition and Dietetics, Bilgi University School of Medicine, Turkey.

SCN2A mutations have been described in a very broad spectrum of clinical phenotypes including benign (familial) neonatal/infantile seizures and early infantile epileptic encephalopathies (EIEE) as Ohtahara syndrome (OS), Dravet syndrome (DS), epilepsy of infancy with migrating focal seizures and West syndrome (WS). Treatment modalities for epilepsy caused by SCN2A mutations mainly consist of sodium channel blockers but ketogenic diet (KD) is also considered as an option of treatment for intractible seizures caused by SCN2A mutations. Because of the wide nature of the heterogeneity of mutations related to SCN2A gene, the clinical phenotypes vary in severity and treatment response to KD has been reported to be controversial. Read More

Zhonghua Er Ke Za Zhi 2018 Nov;56(11):818-823

Department of Neurology, National Center for Children's Health (Beijing) , Beijing Children's Hospital Affiliated to Capital Medical University, Beijing 100045, China.

To summarize the detailed clinical characteristics and genetic features of benign infantile epilepsy with PRRT2 mutation, in order to improve the understanding of the disease. The clinical data and genetic results of 40 benign infantile epilepsy patients with PRRT2 mutation who were diagnosed and treated in the neurology department of National Center for Children's Health (Beijing) , Beijing Children's Hospital affiliated to Capital Medical University from January 2002 to October 2017 and their affected family members were analyzed. Forty benign infantile epilepsy patients were recruited for this study, with 18 males and 22 females. Read More

Brain 2018 Nov;141(11):3160-3178

EuroEPINOMICS RES Consortium.

Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal excitability and their dysfunction has been linked to epileptogenesis but few individuals with neurological disorders related to variants altering HCN channels have been reported so far. In 2014, we described five individuals with epileptic encephalopathy due to de novo HCN1 variants. To delineate HCN1-related disorders and investigate genotype-phenotype correlations further, we assembled a cohort of 33 unpublished patients with novel pathogenic or likely pathogenic variants: 19 probands carrying 14 different de novo mutations and four families with dominantly inherited variants segregating with epilepsy in 14 individuals, but not penetrant in six additional individuals. Read More

Medicina (B Aires) 2018;78 Suppl 2:42-46

Instituto Materno Perinatal de Lima, Perú.

Non-epileptic paroxysmal disorders are frequent events in the neonate, generally transient. However, due to their intensity they can be confused as true epileptic seizures. The objective of this review is to update the concepts in relation to tremors, neonatal benign sleep myoclonus (MNBS) and hyperekplexia. Read More

Hum Mutat 2018 Dec 13;39(12):1942-1956. Epub 2018 Sep 13.

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.

Variants in the SCN2A gene cause a broad spectrum of epilepsy syndromes of variable severity including benign neonatal-infantile epilepsy (BFNIE), developmental and epileptic encephalopathies (DEE), and other neuropsychiatric disorders. Here, we studied three newly identified variants, which caused distinct phenotypes observed in nine affected individuals of three families, including BFNIE, and DEE with intractable neonatal seizures. Whole cell patch-clamp recordings of transfected tsA201 cells disclosed an increased current density and an increased subthreshold sodium inward current upon an action potential stimulus (p. Read More

Epilepsy Behav 2018 09 13;86:173-178. Epub 2018 Jul 13.

Departamento de Química Inorgánica, Orgánica y Bioquímica, Facultad de Ciencias y Tecnologías Químicas/Facultad de Medicina de Ciudad Real, Centro Regional de Investigaciones Biomédicas, Universidad de Castilla-La Mancha, Avenida Camilo José Cela, 10, 13071 Ciudad Real, Spain.

Febrile seizures (FS) represent one of the most frequent convulsive disorders in children which can be classified into simple and prolonged depending on the duration. Although simple FS are generally considered as benign, there is controversy about the outcome of prolonged FS. Here, we have used an animal model of prolonged FS to investigate persistent neurochemical and behavioral alterations in adult rats. Read More

Epilepsia 2018 08 15;59(8):1621-1630. Epub 2018 Jul 15.

Key Laboratory of Molecular Biophysics of the Ministry of Education, Center for Human Genome Research, College of Life Science and Technology, Huazhong University of Science and Technology, Wuhan, China.

Objective: To identify the causative gene of autosomal dominant paroxysmal kinesigenic dyskinesia and benign familial infantile seizures (PKD/BFIS) in a large Chinese family and explore the potential pathogenic mechanism of a PRRT2 (proline-rich transmembrane protein 2) variant.

Methods: Genetic testing was performed via whole exome sequencing. Western blotting and immunofluorescence were used to analyze the protein expression level and subcellular localization of the PRRT2 mutant in HeLa cells and N2A cells. Read More

Zhonghua Er Ke Za Zhi 2018 Jul;56(7):518-523

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

To summarize the phenotype of epileptic children with SCN2A mutations. Epileptic patients who were treated in the Pediatric Department of Peking University First Hospital from September 2006 to October 2017 and detected with SCN2A mutations by targeted next-generation sequencing were enrolled. Clinical manifestations of all patients were analyzed retrospectively. Read More

Proc Natl Acad Sci U S A 2018 06 29;115(24):E5516-E5525. Epub 2018 May 29.

Ion Channels and Disease Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC 3052, Australia;

De novo variants in developmental and epileptic encephalopathy (DEE) show distinctive genotype-phenotype correlations. The two most recurrent variants in DEE, R1882Q and R853Q, are associated with different ages and seizure types at onset. R1882Q presents on day 1 of life with focal seizures, while infantile spasms is the dominant seizure type seen in R853Q cases, presenting at a median age of 8 months. Read More

Neuropediatrics 2018 Aug 25;49(4):256-261. Epub 2018 May 25.

PEDEGO Research Unit, University of Oulu, Finland.

Alexander disease (AxD) is a genetic leukodystrophy caused by mutations leading to astrocyte dysfunction. Neonatal AxD is a rare phenotype with onset in the first month of life. The proband, belonging to a large pedigree with dominantly inherited benign familial neonatal epilepsy (BFNE), had a phenotype distinct from the rest of the family, with hypotonia and macrocephaly in addition to drug-resistant neonatal seizures. Read More

Acta Myol 2017 Sep 1;36(3):125-134. Epub 2017 Sep 1.

Department of Neurosurgery, Ulm University, Ulm, Germany.

Introduction: Myotonia permanens due to Nav1.4-G1306E is a rare sodium channelopathy with potentially life-threatening respiratory complications. Our goal was to study phenotypic variability throughout life. Read More

Ital J Pediatr 2018 May 15;44(1):54. Epub 2018 May 15.

University-Hospital 'Policlinico-Vittorio Emanuele, University of Catania, Catania, Italy.

Background: At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment. Read More

Rev Neurol 2018 Apr;66(8):254-260

Hospital Torrecardenas, 04009 Almeria, Espana.

Introduction: Benign infantile epilepsy is an epileptic syndrome of infancy. Until now, only a small number of case-series have been published.

Aim: To study the frequency, semiology and prognosis of benign infantile epilepsy. Read More

Brain Dev 2018 Sep 4;40(8):724-727. Epub 2018 Apr 4.

Department of Pediatrics, Cathay General Hospital, Taipei, Taiwan; School of Medicine, Fu Jen Catholic University, New Taipei City, Taiwan; Department of Pediatrics, Fu Jen Catholic University Hospital, New Taipei City, Taiwan. Electronic address:

SCN2A mutations have been identified in various encephalopathy phenotypes, ranging from benign familial neonatal-infantile seizure (BFNIS) to more severe forms of epileptic encephalopathy such as Ohtahara syndrome or epilepsy of infancy with migrating focal seizure (EIMFS). Thus far, no particularly effective treatment is available for severe epileptic encephalopathy caused by SCN2A mutations in children. We present the case of a boy who developed seizures on the third day of life and received a diagnosis of EIMFS based on his clinical presentations and electroencephalography reports. Read More

Zhonghua Er Ke Za Zhi 2018 Apr;56(4):267-273

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

To investigate the spectrum of mutations in families with benign familial neonatal-infantile epilepsy (BFNIE) . Clinical data and peripheral blood DNA samples of all BFNIE probands and their family members were collected from Peking University First Hospital between December 2012 and April 2016. Clinical phenotypes of affected members were analyzed. Read More

Continuum (Minneap Minn) 2018 02;24(1, Child Neurology):186-209

Purpose Of Review: Epilepsy syndromes are an important clinical construct in pediatric epilepsy, as they encompass recognizable patterns seen in patients with epilepsies, whether of the more benign variety or associated with encephalopathy.

Recent Findings: Syndromes may be organized by age of onset: neonatal, infantile, childhood, or adolescent. The assignment of a syndrome has specific implications for diagnosis, management, and prognostication. Read More

Semin Fetal Neonatal Med 2018 06 31;23(3):197-203. Epub 2018 Jan 31.

Epilepsy Genetics Program, Department of Neurology, Division of Epilepsy, Boston Children's Hospital, Boston, MA, USA. Electronic address:

Neonatal epilepsy genetics is a rapidly expanding field with recent technological advances in genomics leading to an expanding list of genetic disorders associated with neonatal-onset epilepsy. The genetic causes of neonatal epilepsy can be grouped into the following categories: (i) malformations of cortical development, (ii) genetic-metabolic, (iii) genetic-vascular, (iv) genetic-syndromic, and (v) genetic-cellular. Clinically, epilepsy in the neonate shows phenotypic overlap with pathogenic variants in unrelated genes causing similar clinical presentation (locus heterogeneity) and variants in the same gene leading to a wide clinical spectrum ranging from benign familial neonatal seizures to more severe epileptic encephalopathies (variable expressivity). Read More

Mol Neurobiol 2018 Aug 30;55(8):7009-7024. Epub 2018 Jan 30.

Department of Medicine and Health Science, University of Molise, Campobasso, Italy.

Over one hundred mutations in the Kv7.2 (KCNQ2) gene encoding for phosphatidylinositol 4,5-bisphosphate (PIP)-sensitive voltage-gated K channel subunits have been identified in early-onset epilepsies with wide phenotypic variability. By contrast, only few mutations in the closely related Kv7. Read More

J Hum Genet 2018 Jan 13;63(1):9-18. Epub 2017 Nov 13.

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

Benign familial epilepsies that present themselves in the first year of life include benign familial neonatal epilepsy (BFNE), benign familial neonatal-infantile epilepsy (BFNIE) and benign familial infantile epilepsy (BFIE). We used Sanger sequencing and targeted next-generation sequencing to detect gene mutations in a Chinese cohort of patients with these three disorders. A total of 79 families were collected, including 4 BFNE, 7 BFNIE, and 68 BFIE. Read More

Cold Spring Harb Mol Case Stud 2018 02 1;4(1). Epub 2018 Feb 1.

Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, California 94143, USA.

Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disorder characterized by recurrent attacks of dyskinetic movements without alteration of consciousness that are often triggered by the initiation of voluntary movements. Whole-exome sequencing has revealed a cluster of pathogenic variants in (proline-rich transmembrane protein), a gene with a function in synaptic regulation that remains poorly understood. Here, we report the discovery of a novel pathogenic variant inherited in an autosomal dominant pattern in a family with PKD and benign familial infantile seizures (BFIS). Read More

Zhongguo Dang Dai Er Ke Za Zhi 2017 Nov;19(11):1191-1195

Department of Pediatrics, Second Affiliated Hospital of Wenzhou Medical University, Wenzhou, Zhejiang 325000, China.

Objective: To study the clinical features and prognosis of benign infantile convulsions associated with mild gastroenteritis (BICE).

Methods: A retrospective analysis was performed for the clinical data of 436 children with BICE, and among these children, 206 were followed up for 1.5 to 7 years. Read More

IEEE J Biomed Health Inform 2018 07 11;22(4):1114-1123. Epub 2017 Sep 11.

In neonatal intensive care units, there is a need for around the clock monitoring of electroencephalogram (EEG), especially for recognizing seizures. An automated seizure detector with an acceptable performance can partly fill this need. In order to develop a detector, an extensive dataset labeled by experts is needed. Read More

Epilepsy Behav Case Rep 2017 15;8:35-39. Epub 2017 Mar 15.

IRCCS, Institute of Neurological Sciences of Bologna, Child Neurology Unit, via Altura 3, Bologna, Italy.

Infants with West Syndrome and underlying structural pathology typically experience persistent symptomatic focal seizures and intellectual disability. We performed a retrospective case review of 84 patients with West Syndrome evaluated at one institution between 1990 and 2013. From this group we identified three patients with West syndrome and congenital hemiplegia who later developed genetic epilepsy features and had normal intellectual development. Read More

Neurology 2017 Aug 21;89(9):893-899. Epub 2017 Jul 21.

From the Department of Pediatrics & Communicable Diseases (R.A.S.), University of Michigan, Ann Arbor; Departments of Neurology & Pediatrics (C.J.W.), Stanford University, Palo Alto, CA; Department of Neurology (T.N.T., N.W.), Children's National Health System, George Washington University School of Medicine, Washington, DC; Departments of Neurology and Pediatrics (H.C.G., M.R.C.), UCSF Benioff Children's Hospital, and Department of Epidemiology & Biostatistics (H.C.G.), University of California San Francisco; Department of Neurology (C.J.C.), Massachusetts General Hospital, Boston; Departments of Neurology and Pediatrics (S.L.M., N.S.A.), The Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania; and Department of Neurology (J.S.S.), Boston Children's Hospital, MA.

Objective: Although individual neonatal epilepsy syndromes are rare, as a group they represent a sizable subgroup of neonatal seizure etiologies. We evaluated the profile of neonatal epilepsies in a prospective cohort of newborns with seizures.

Methods: Consecutive newborns with seizures were enrolled in the Neonatal Seizure Registry (an association of 7 US children's hospitals). Read More

Brain Dev 2018 Jan 4;40(1):69-73. Epub 2017 Jul 4.

Department of Pediatrics, Jichi Medical University, Japan. Electronic address:

Background: The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies. We herein report a patient with early myoclonic encephalopathy (EME) caused by a KCNQ2 mutation.

Case Report: A male infant started to exhibit erratic myoclonus several days after birth and apnea attacks lasting for seconds with desaturation. Read More

PLoS One 2017 7;12(7):e0180485. Epub 2017 Jul 7.

Department of Pediatrics, School of Medicine and Central Research Institute for the Molecular Pathogeneses of Epilepsy, Fukuoka University, Fukuoka, Japan.

Dravet syndrome (DS) is a rare, devastating form of childhood epilepsy that is often associated with mutations in the voltage-gated sodium channel gene, SCN1A. There is considerable variability in expressivity within families, as well as among individuals carrying the same primary mutation, suggesting that clinical outcome is modulated by variants at other genes. To identify modifier gene variants that contribute to clinical outcome, we sequenced the exomes of 22 individuals at both ends of a phenotype distribution (i. Read More

Am J Med Genet A 2017 Aug 11;173(8):2226-2230. Epub 2017 Jun 11.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.

KCNQ2 has been reported as a frequent cause of autosomal dominant benign familial neonatal seizures. De novo likely pathogenic variants in KCNQ2 have been described in neonatal or early infantile onset epileptic encephalopathy patients. Here, we report a three-generation family with six affected patients with a novel likely pathogenic variant (c. Read More

Epileptic Disord 2017 Jun;19(2):222-225

Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.

Benign infantile seizures (BIS) are usually a self-limiting condition, which may be associated with heterozygous mutations in the PRRT2 gene at chromosome 16p11.2. Here, we report a boy with a deletion in 16p11. Read More

Eur J Paediatr Neurol 2017 Sep 13;21(5):773-782. Epub 2017 May 13.

Department of Molecular Biology and Genetics, Bogazici University, Istanbul, Turkey. Electronic address:

Benign Familial Infantile Epilepsy (BFIE) is clinically characterized by clusters of brief partial seizures progressing to secondarily generalized seizures with onset at the age of 3-7 months and with favorable outcome. PRRT2 mutations are the most common cause of BFIE, and found in about 80% of BFIE families. In this study, we analyzed a large multiplex BFIE family by linkage and whole exome sequencing (WES) analyses. Read More

Child Neurol Open 2017 Jan-Dec;4:2329048X17691396. Epub 2017 Feb 23.

Division of Pediatric Neurology, Montreal Children's Hospital, McGill University Health Centre (MUHC), Montréal, Quebec City, Canada.

Benign familial neonatal convulsion is a rare autosomal dominant inherited epilepsy syndrome characterized by unprovoked seizures in the first few days of life, normal psychomotor development, and a positive intergenerational family history of neonatal seizures. Over 90% of the affected individuals have inherited causal mutations in , which encodes for the potassium voltage-gated channel subfamily Q, member 2. Mutations in are also associated with a severe neonatal encephalopathy phenotype associated with poor seizure control and neurodevelopmental deficits. Read More

BJOG 2017 Sep;124(10):1481-1489

Nuffield Department of Primary Care Health Sciences, University of Oxford, Oxford, UK.

Background: Variation in outcome collection and reporting is a serious hindrance to progress in our specialty; therefore, over 80 journals have come together to support the development, dissemination, and implementation of core outcome sets.

Objective: This study systematically reviewed and characterised registered, progressing, or completed core outcome sets relevant to women's and newborn health.

Search Strategy: Systematic search using the Core Outcome Measures in Effectiveness Trial initiative and the Core Outcomes in Women's and Newborn Health initiative databases. Read More

Biomed Mater Eng 2017 ;28(s1):S243-S253

Hubei Provincial Key Laboratory of Developmentally Originated Disease, Wuhan University, Wuhan, China.

Background: KCNQ2 plays a key role in the regulation of neuronal excitability. The R214W and Y284C mutants of KCNQ2 channels, which are associated with BFNC, can decrease channel function to cause neuronal hyperexcitability and promote seizures. Previous studies revealed that elevated temperature caused up-regulation of KCNQ2 expression. Read More

Biol Psychiatry 2017 08 27;82(3):224-232. Epub 2017 Jan 27.

Center for Integrative Neuroscience, Kavli Institute for Fundamental Neuroscience, Department of Neurology, San Francisco, San Francisco; UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco; Department of Chemistry, University of Puerto Rico, Río Piedras Campus, San Juan, Puerto Rico. Electronic address:

Background: Variants in the SCN2A gene that disrupt the encoded neuronal sodium channel Na1.2 are important risk factors for autism spectrum disorder (ASD), developmental delay, and infantile seizures. Variants observed in infantile seizures are predominantly missense, leading to a gain of function and increased neuronal excitability. Read More

Clin Neurophysiol 2017 Apr 29;128(4):647-655. Epub 2017 Jan 29.

Department of Neuroscience and Biomedical Engineering, Aalto University, PO Box 12200, 00076 Aalto, Espoo, Finland; Department of Art, Aalto University, PO Box 31000, 00076 Aalto, Helsinki, Finland. Electronic address:

Objective: Somatosensory evoked potentials have high prognostic value in neonatal intensive care, but their recording from infants is challenging. Here, we studied the possibility to elicit cortical responses in newborns by simple passive hand movements.

Methods: We examined 13 newborns (postnatal age 1-46days) during clinically indicated 19-channel electroencephalography (EEG) recordings in the neonatal intensive care unit; EEG indications included birth asphyxia and suspected epileptic seizures. Read More

Comput Biol Med 2017 03 26;82:100-110. Epub 2017 Jan 26.

Irish Centre for Fetal and Neonatal Translational Research (INFANT), Ireland; Department of Electrical and Electronic Engineering, University College Cork, Ireland.

Seizure events in newborns change in frequency, morphology, and propagation. This contextual information is explored at the classifier level in the proposed patient-independent neonatal seizure detection system. The system is based on the combination of a static and a sequential SVM classifier. Read More

Pediatr Neurol 2017 Feb 8;67:111-112. Epub 2016 Dec 8.

Department of Neurology and Clinical Neurophysiology, Temple Street Children's University Hospital, Dublin 1, Ireland; Academic Centre on Rare Diseases, School of Medicine and Medical Science, University College Dublin, Belfield, Dublin 4, Ireland.

Neurosciences (Riyadh) 2017 Jan;22(1):14-19

Department of Pediatrics, College of Medicine, King Saud University Medical City, King Saud University, Riyadh, Kingdom of Saudi Arabia. E-mail:

Seizures in children are among the most common neurological disorders. A pediatrician should know how to approach a child who presents with a seizure. This review will focus on points that are important in the evaluation of children who have experienced seizures. Read More

J Formos Med Assoc 2017 Sep 27;116(9):711-719. Epub 2016 Dec 27.

Institute of Medicine, School of Medicine, Chung Shan Medical University, Taichung, Taiwan; Genetics Laboratory and Department of Biomedical Sciences, Chung Shan Medical University, Taichung, Taiwan. Electronic address:

Background/purpose: Pediatric epilepsy caused by a KCNQ2 gene mutation usually manifests as benign familial neonatal seizures (BFNS) during the 1 week of life. However, the exact mechanism, phenotype, and genotype of the KCNQ2 mutation are unclear.

Methods: We studied the KCNQ2 genotype from 75 nonconsanguineous patients with childhood epilepsy without an identified cause (age range: from 2 days to 18 years) and from 55 healthy adult controls without epilepsy. Read More

Sci Rep 2016 12 1;6:38167. Epub 2016 Dec 1.

Department of Medicine and Health Sciences, University of Molise, Campobasso, Italy.

Kv7.2 and Kv7.3 subunits underlie the M-current, a neuronal K current characterized by an absolute functional requirement for phosphatidylinositol 4,5-bisphosphate (PIP). Read More

Epilepsia 2016 12 26;57(12):2019-2030. Epub 2016 Nov 26.

Department of Neurology, University of California San Francisco, San Francisco, California, U.S.A.

Objective: To evaluate treatment responses in benign familial neonatal epilepsy (BFNE).

Methods: We recruited patients with BFNE through a multicenter international collaboration and reviewed electroclinical and genetic details, and treatment response. All patients were tested at minimum for mutations/deletions in the KCNQ2, KCNQ3, and SCN2A genes. Read More

Pediatr Neurol 2017 01 18;66:108-111. Epub 2016 Oct 18.

Department of Neurology, University of Minnesota, Minneapolis, Minnesota. Electronic address:

Background: Genetic alterations are significant causes of epilepsy syndromes; especially early-onset epileptic encephalopathies and voltage-gated sodium channelopathies are among the best described. Mutations in the SCN2A subunit of voltage-gated sodium channels have been associated with benign familial neonatal-infantile seizures, generalized epilepsy febrile seizures plus, and an early-onset infantile epileptic encephalopathy.

Method: We describe two infants with medically refractory seizures due to a de novo SCN2A mutation. Read More

Biochim Biophys Acta Biomembr 2017 Apr 4;1859(4):586-597. Epub 2016 Nov 4.

Department of Biochemistry, Vanderbilt University, Nashville, TN, USA; Center for Structural Biology, Vanderbilt University, Nashville, TN, USA; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA. Electronic address:

Many years of studies have established that lipids can impact membrane protein structure and function through bulk membrane effects, by direct but transient annular interactions with the bilayer-exposed surface of protein transmembrane domains, and by specific binding to protein sites. Here, we focus on how phosphatidylinositol 4,5-bisphosphate (PIP) and polyunsaturated fatty acids (PUFAs) impact ion channel function and how the structural details of the interactions of these lipids with ion channels are beginning to emerge. We focus on the Kv7 (KCNQ) subfamily of voltage-gated K channels, which are regulated by both PIP and PUFAs and play a variety of important roles in human health and disease. Read More

Mol Syndromol 2016 Sep 20;7(4):210-219. Epub 2016 Aug 20.

Amplexa Genetics, Odense, Denmark.

In recent years, several genes have been causally associated with epilepsy. However, making a genetic diagnosis in a patient can still be difficult, since extensive phenotypic and genetic heterogeneity has been observed in many monogenic epilepsies. This study aimed to analyze the genetic basis of a wide spectrum of epilepsies with age of onset spanning from the neonatal period to adulthood. Read More