The expanding spectrum of movement disorders in genetic epilepsies

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