标题
The expanding spectrum of movement disorders in genetic epilepsies
作者
关键词
-
出版物
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Volume -, Issue -, Pages -
出版商
Wiley
发表日期
2019-12-02
DOI
10.1111/dmcn.14407
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model
- (2019) Kevin Lüthy et al. BRAIN
- Phenotypes, genotypes, and the management of paroxysmal movement disorders
- (2018) Laura Silveira-Moriyama et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- PCDH19 -related epilepsy is associated with a broad neurodevelopmental spectrum
- (2018) Lacey Smith et al. EPILEPSIA
- Myoclonus in Angelman syndrome
- (2018) Sarah F. Pollack et al. EPILEPSY & BEHAVIOR
- A de novo GABRA2 missense mutation in severe early-onset epileptic encephalopathy with a choreiform movement disorder
- (2018) Naama Orenstein et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Study of Intraventricular Cerliponase Alfa for CLN2 Disease
- (2018) Angela Schulz et al. NEW ENGLAND JOURNAL OF MEDICINE
- A relatively mild phenotype associated with mutation of SCN8A
- (2018) Irene Bagnasco et al. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
- CHRNA4 variant causes paroxysmal kinesigenic dyskinesia and genetic epilepsy with febrile seizures plus?
- (2018) Yong-li Jiang et al. SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
- Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy
- (2018) Gözde Yeşil et al. Balkan Medical Journal
- Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype
- (2017) Kathleen M. Gorman et al. EPILEPSIA
- Heterozygous truncation mutations of theSMC1Agene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases
- (2017) Joseph D. Symonds et al. EPILEPSIA
- Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy
- (2017) Lisa J Ewans et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy
- (2017) Yoav Zehavi et al. European Journal of Medical Genetics
- Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability
- (2017) Nuria C. Bramswig et al. HUMAN GENETICS
- Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene
- (2017) Xiao-Meng Yin et al. HUMAN MOLECULAR GENETICS
- Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy
- (2017) Tojo Nakayama et al. HUMAN MUTATION
- Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches
- (2017) Suvasini Sharma et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
- (2017) Margot R F Reijnders et al. JOURNAL OF MEDICAL GENETICS
- GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
- (2017) Konrad Platzer et al. JOURNAL OF MEDICAL GENETICS
- Novel mutation in the KCNJ10 gene in three siblings with seizures, ataxia and no electrolyte abnormalities
- (2017) Muna A. Al Dhaibani et al. JOURNAL OF NEUROGENETICS
- The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies
- (2017) Roberto Erro et al. MOVEMENT DISORDERS
- SZT2 dictates GATOR control of mTORC1 signalling
- (2017) Min Peng et al. NATURE
- DNM1 encephalopathy
- (2017) Sarah von Spiczak et al. NEUROLOGY
- Clinical and molecular characterization ofKCNT1-related severe early-onset epilepsy
- (2017) Amy McTague et al. NEUROLOGY
- Not all SCN1A epileptic encephalopathies are Dravet syndrome
- (2017) Lynette G. Sadleir et al. NEUROLOGY
- Mutations in GABRB3
- (2017) Rikke S. Møller et al. NEUROLOGY
- Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome
- (2017) NEW ENGLAND JOURNAL OF MEDICINE
- Expanding the phenotype of SCA19/22: Parkinsonism, cognitive impairment and epilepsy
- (2017) Vincent Huin et al. PARKINSONISM & RELATED DISORDERS
- Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures
- (2016) Slavé Petrovski et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Autosomal-Recessive Mutations in AP3B2 , Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy
- (2016) Mirna Assoum et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy
- (2016) Mikko Muona et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
- (2016) Estelle Colin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
- (2016) Candace T. Myers et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy
- (2016) Marianna Madeo et al. AMERICAN JOURNAL OF HUMAN GENETICS
- GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
- (2016) Dong Li et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Novel Nonsense Mutation in DNAJC 6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease
- (2016) Liena Elbaghir Omer Elsayed et al. ANNALS OF NEUROLOGY
- Benign infantile seizures and paroxysmal dyskinesia caused by anSCN8Amutation
- (2016) Elena Gardella et al. ANNALS OF NEUROLOGY
- D NAJC 6 Mutations Associated With Early-Onset Parkinson's Disease
- (2016) Simone Olgiati et al. ANNALS OF NEUROLOGY
- EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
- (2016) Susan Byrne et al. BRAIN
- De novo GABRG2mutations associated with epileptic encephalopathies
- (2016) Dingding Shen et al. BRAIN
- High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders
- (2016) Yu Kobayashi et al. BRAIN & DEVELOPMENT
- Rett-like phenotypes: expanding the genetic heterogeneity to theKCNA2gene and first familial case ofCDKL5-related disease
- (2016) L. Allou et al. CLINICAL GENETICS
- De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum
- (2016) S. Jansen et al. CLINICAL GENETICS
- The molecular and phenotypic spectrum ofIQSEC2-related epilepsy
- (2016) Ayelet Zerem et al. EPILEPSIA
- De novoGABRA1mutations in Ohtahara and West syndromes
- (2016) Hirofumi Kodera et al. EPILEPSIA
- Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures
- (2016) Brahim Tabarki et al. HUMAN GENETICS
- WDR45 mutations in three male patients with West syndrome
- (2016) Mitsuko Nakashima et al. JOURNAL OF HUMAN GENETICS
- A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy
- (2016) Atsushi Ishii et al. JOURNAL OF MEDICAL GENETICS
- Genetic and neurodevelopmental spectrum ofSYNGAP1-associated intellectual disability and epilepsy
- (2016) Cyril Mignot et al. JOURNAL OF MEDICAL GENETICS
- The genetic landscape of the epileptic encephalopathies of infancy and childhood
- (2016) Amy McTague et al. LANCET NEUROLOGY
- TBC1D24genotype–phenotype correlation
- (2016) Simona Balestrini et al. NEUROLOGY
- Delineation of the movement disorders associated withFOXG1mutations: Table 1
- (2016) Apostolos Papandreou et al. NEUROLOGY
- Delineating the GRIN1 phenotypic spectrum
- (2016) Johannes R. Lemke et al. NEUROLOGY
- Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy
- (2016) Aleksandra Siekierska et al. NEUROLOGY
- STXBP1encephalopathy
- (2016) Hannah Stamberger et al. NEUROLOGY
- Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder
- (2016) Amitha L. Ananth et al. PEDIATRIC NEUROLOGY
- Clinical, Genetic, and Radiological Features of Extrapyramidal Movement Disorders in Mitochondrial Disease
- (2016) Mika H. Martikainen et al. JAMA Neurology
- Molecular Pathogenic Basis forGABRG2Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome
- (2016) Jing-Qiong Kang et al. JAMA Neurology
- Diagnostic workup and management of patients with suspected Niemann-Pick type C disease
- (2016) Apostolos Papandreou et al. Therapeutic Advances in Neurological Disorders
- Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice
- (2016) Daniel T. Pederick et al. Scientific Reports
- Loss-of-Function Alanyl-tRNA Synthetase Mutations Cause an Autosomal-Recessive Early-Onset Epileptic Encephalopathy with Persistent Myelination Defect
- (2015) Cas Simons et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures
- (2015) Gemma L. Carvill et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Early-onset encephalopathy with epilepsy associated with a novel splice site mutation inSMC1A
- (2015) Nicolas Lebrun et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Severe CNS involvement inWWOXmutations: Description of five new cases
- (2015) Brahim Tabarki et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The evolving spectrum ofPRRT2-associated paroxysmal diseases
- (2015) Darius Ebrahimi-Fakhari et al. BRAIN
- The clinical and genetic heterogeneity of paroxysmal dyskinesias
- (2015) Alice R. Gardiner et al. BRAIN
- Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism
- (2015) Darius Ebrahimi-Fakhari et al. BRAIN
- Recessive mutations inSLC13A5result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
- (2015) Katia Hardies et al. BRAIN
- Ataxia and myoclonic epilepsy due to a heterozygous new mutation inKCNA2: proposal for a new channelopathy
- (2015) S.D.J. Pena et al. CLINICAL GENETICS
- GABRB3mutations: a new and emerging cause of early infantile epileptic encephalopathy
- (2015) Apostolos Papandreou et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion
- (2015) Nicholas M. Allen et al. EPILEPSIA
- GRIN1mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders
- (2015) Chihiro Ohba et al. EPILEPSIA
- Diagnostic yield of genetic testing in epileptic encephalopathy in childhood
- (2015) Saadet Mercimek-Mahmutoglu et al. EPILEPSIA
- De novoDNM1mutations in two cases of epileptic encephalopathy
- (2015) Mitsuko Nakashima et al. EPILEPSIA
- Novel mutations inATP1A3associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly
- (2015) Alex R. Paciorkowski et al. EPILEPSIA
- CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms
- (2015) Lena Damaj et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay
- (2015) Hirotomo Saitsu et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- The diagnostic pathway in complex paediatric neurology: A cost analysis
- (2015) K.J.M. van Nimwegen et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
- (2015) Sue Richards et al. GENETICS IN MEDICINE
- Progressive Movement Disorder in Brothers Carrying a GNAO1 Mutation Responsive to Deep Brain Stimulation
- (2015) Neil Kulkarni et al. JOURNAL OF CHILD NEUROLOGY
- SPTAN1 encephalopathy: distinct phenotypes and genotypes
- (2015) Jun Tohyama et al. JOURNAL OF HUMAN GENETICS
- HACE1deficiency causes an autosomal recessive neurodevelopmental syndrome
- (2015) Ronja Hollstein et al. JOURNAL OF MEDICAL GENETICS
- De novoKCNMA1mutations in children with early-onset paroxysmal dyskinesia and developmental delay
- (2015) Zhong-Bin Zhang et al. MOVEMENT DISORDERS
- A Novel HomozygousTBC1D24Mutation Causing Multifocal Myoclonus With Cerebellar Involvement
- (2015) Diane Doummar et al. MOVEMENT DISORDERS
- De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
- (2015) Steffen Syrbe et al. NATURE GENETICS
- Monoamine neurotransmitter disorders—clinical advances and future perspectives
- (2015) Joanne Ng et al. Nature Reviews Neurology
- The phenotypic spectrum of SCN8A encephalopathy
- (2015) J. Larsen et al. NEUROLOGY
- SCN2Aencephalopathy
- (2015) Katherine B. Howell et al. NEUROLOGY
- The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond
- (2015) Matthew T. Sweney et al. PEDIATRIC NEUROLOGY
- De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing
- (2015) Hirotomo Saitsu et al. Scientific Reports
- Neuropathology of Beta-propeller protein associated neurodegeneration (BPAN): a new tauopathy
- (2015) R. Paudel et al. Acta Neuropathologica Communications
- Mutations in SLC13A5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life
- (2014) Julien Thevenon et al. AMERICAN JOURNAL OF HUMAN GENETICS
- De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability
- (2014) Detelina Grozeva et al. AMERICAN JOURNAL OF HUMAN GENETICS
- De novo deletion ofTBL1XR1in a child with non-specific developmental delay supports its implication in intellectual disability
- (2014) Anne-Claude Tabet et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Genetic disorders associated with postnatal microcephaly
- (2014) Laurie E. Seltzer et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Epilepsy and outcome inFOXG1-related disorders
- (2014) Laurie E. Seltzer et al. EPILEPSIA
- A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation
- (2014) Hirotomo Saitsu et al. JOURNAL OF HUMAN GENETICS
- WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation
- (2014) Cyril Mignot et al. JOURNAL OF MEDICAL GENETICS
- Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients
- (2014) Annalisa Sechi et al. MOLECULAR GENETICS AND METABOLISM
- A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism
- (2014) Michael J. Keogh et al. NEUROGENETICS
- Rare inborn errors of metabolism with movement disorders: a case study to evaluate the impact upon quality of life and adaptive functioning
- (2014) Hendriekje Eggink et al. Orphanet Journal of Rare Diseases
- Phenotypes associated with inherited and developmental somatic mutations in genes encoding mTOR pathway components
- (2014) Anurag Saxena et al. SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
- GRIN2Bmutations in west syndrome and intellectual disability with focal epilepsy
- (2013) Johannes R. Lemke et al. ANNALS OF NEUROLOGY
- Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum
- (2013) Amy McTague et al. BRAIN
- Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
- (2013) Susan J. Hayflick et al. BRAIN
- Head stereotypies inSTXBP1encephalopathy
- (2013) Young Ok Kim et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndrome
- (2013) J Helen Cross et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Clinical spectrum of early onset epileptic encephalopathies caused byKCNQ2mutation
- (2013) Mitsuhiro Kato et al. EPILEPSIA
- De novo mutations in epileptic encephalopathies
- (2013) et al. NATURE
- MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways
- (2013) Alex R. Paciorkowski et al. NEUROGENETICS
- Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients
- (2013) S. Weckhuysen et al. NEUROLOGY
- Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome
- (2012) Hirotomo Saitsu et al. ANNALS OF NEUROLOGY
- Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study
- (2012) RUSSELL C DALE et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Epilepsy in Rett syndrome, andCDKL5- andFOXG1-gene-related encephalopathies
- (2012) Renzo Guerrini et al. EPILEPSIA
- MCT8 Deficiency
- (2012) Davide Tonduti et al. JOURNAL OF CHILD NEUROLOGY
- Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy
- (2012) Sarah E Heron et al. NATURE GENETICS
- DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability
- (2012) Çiğdem Köroğlu et al. PARKINSONISM & RELATED DISORDERS
- A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia
- (2011) Mark A. Corbett et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Clinical spectrum of SCN2A mutations
- (2011) Xiuyu Shi et al. BRAIN & DEVELOPMENT
- Neonatal seizures associated with a severe neonatal myoclonus like dyskinesia due to a familial KCNQ2 gene mutation
- (2011) Lubov Blumkin et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
- (2011) Wan-Jin Chen et al. NATURE GENETICS
- Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype
- (2011) Mario Mastrangelo et al. PEDIATRIC NEUROLOGY
- Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder
- (2010) W. G. Leen et al. BRAIN
- Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009
- (2010) Anne T. Berg et al. EPILEPSIA
- Progressive ataxia and myoclonic epilepsy in a patient with a homozygous mutation in the FOLR1 gene
- (2010) Belén Pérez-Dueñas et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Complex hyperkinetic movement disorders associated with POLG mutations
- (2010) Matthis Synofzik et al. MOVEMENT DISORDERS
- Definition and classification of hyperkinetic movements in childhood
- (2010) Terence D. Sanger et al. MOVEMENT DISORDERS
- Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations
- (2010) L. Deprez et al. NEUROLOGY
- SCARB2mutations in progressive myoclonus epilepsy (PME) without renal failure
- (2009) L.M. Dibbens et al. ANNALS OF NEUROLOGY
- A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder
- (2009) MICHAEL ABSOUD et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Movement disorders in neuro-metabolic diseases
- (2009) Neziha Gouider-Khouja et al. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
- Inborn errors of metabolism and motor disturbances in children
- (2009) A. García-Cazorla et al. JOURNAL OF INHERITED METABOLIC DISEASE
- SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome
- (2008) Gregor D. Gilfillan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome
- (2008) Alexander G. Bassuk et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Key clinical features to identify girls with CDKL5 mutations
- (2008) Nadia Bahi-Buisson et al. BRAIN
- Expansion of the ARX spectrum
- (2008) Robert Wallerstein et al. CLINICAL NEUROLOGY AND NEUROSURGERY
- Status epilepticus in children with Alpers’ disease caused byPOLG1mutations: EEG and MRI features
- (2008) Nicole I. Wolf et al. EPILEPSIA
- Combination of infantile spasms, non-epileptic seizures and complex movement disorder: A new case of ARX-related epilepsy
- (2008) Karine Poirier et al. EPILEPSY RESEARCH
- Movement disorders in Rett syndrome: An analysis of 60 patients with detected MECP2 mutation and correlation with mutation type
- (2008) Teresa Temudo et al. MOVEMENT DISORDERS
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started