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Journal of Neurology, Neurosurgery and Psychiatry, ISSN 0022-3050, 02/2018, Volume 89, Issue 2, pp. 138 - 146
Objective To report the clinical and immunological characteristics of 22 new patients with glial fibrillar acidic protein (GFAP) autoantibodies. Methods From... 
autoimmune encephalitis | autoimmune neurology | meningoencephalitis | astrocytes | autoantibodies | AUTOANTIBODIES | SURGERY | DENDRITIC CELLS | PSYCHIATRY | ALZHEIMERS-DISEASE | MACROPHAGES | ASTROCYTES | CLINICAL NEUROLOGY | FIBRILLARY ACIDIC PROTEIN | ENCEPHALITIS | CENTRAL-NERVOUS-SYSTEM | CHOROID-PLEXUS | CORTICOSTEROIDS | Meningoencephalitis - physiopathology | Glial Fibrillary Acidic Protein - genetics | Brain - diagnostic imaging | Humans | Middle Aged | Movement Disorders - immunology | Male | Plasma Exchange | Ovarian Neoplasms - complications | Cerebellar Ataxia - immunology | Meningoencephalitis - immunology | Young Adult | Autoimmune Diseases of the Nervous System - physiopathology | Carcinoma - complications | Myelitis - immunology | Immunotherapy | Encephalomyelitis - therapy | Aged, 80 and over | Child | Myoclonus - immunology | Myelitis - physiopathology | Spinal Cord - diagnostic imaging | Autoimmune Diseases of the Nervous System - complications | Mice, Knockout | Myelitis - complications | Magnetic Resonance Imaging | Meningoencephalitis - complications | Cerebellar Ataxia - complications | Cerebellar Ataxia - therapy | Movement Disorders - physiopathology | Drug Resistant Epilepsy - immunology | Immunoglobulins, Intravenous - therapeutic use | Protein Isoforms | Adolescent | Drug Resistant Epilepsy - therapy | Mice | Myoclonus - therapy | Glucocorticoids - therapeutic use | Glial Fibrillary Acidic Protein - immunology | Cerebellar Ataxia - physiopathology | Myoclonus - complications | Encephalomyelitis - complications | Encephalomyelitis - physiopathology | Adult | Female | Optic Neuritis - immunology | Optic Neuritis - complications | Optic Neuritis - therapy | Myoclonus - physiopathology | Movement Disorders - complications | Thymus Neoplasms - complications | Autoimmune Diseases of the Nervous System - immunology | Breast Neoplasms - complications | Autoantibodies - immunology | Drug Resistant Epilepsy - complications | Animals | Movement Disorders - therapy | Optic Neuritis - physiopathology | Encephalomyelitis - immunology | Meningoencephalitis - therapy | Aged | Autoimmune Diseases of the Nervous System - therapy | Myelitis - therapy | Thymoma - complications | Drug Resistant Epilepsy - physiopathology | Immunologic Factors - therapeutic use | Autoimmunity | Usage | Care and treatment | Autoantibodies | Autoimmune diseases | Analysis | Encephalitis | Brain | Antigens | Multiple sclerosis | Immunoglobulins | Spinal cord | Dendritic cells | Disease | Epilepsy | Aquaporins | Cognitive ability | Nervous system | Drug resistance | Patients | Proteins | Immunology | Microscopy | Rheumatoid arthritis | Rodents | Ataxia | Animal cognition | Index Medicus
Journal Article
World Neurosurgery, ISSN 1878-8750, 10/2017, Volume 106, pp. 394 - 401
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 10/2014, Volume 99, Issue Suppl 2, pp. A308 - A308
Background and aimsThe purpose of this study was to retrospectively evaluate the severe chickenpox complications among immunocompetent children.MethodsDuring a... 
Cerebellum | Scarlet fever | Cerebellar ataxia | Chicken pox | Medical records | Vaccines | Dehydration | Acyclovir | Fever | Thrombocytopenic purpura | Infectious diseases | Antibiotics | Purpura | Varicella | Sepsis | Respiratory tract diseases | Ataxia | Children
Journal Article
Journal Article
The Journal of Pediatrics, ISSN 0022-3476, 2004, Volume 144, Issue 4, pp. 505 - 511
Journal Article
Journal Article
Journal of Neurology, ISSN 0340-5354, 10/2014, Volume 261, Issue 10, pp. 1911 - 1916
We present a clinical, neuro-radiological and genetic study on a family with members suffering from an autosomal dominantly inherited syndrome characterised by... 
Neurology | Neurosciences | Coats plus disease | Cerebral calcifications | Medicine & Public Health | CRMCC | Labrune syndrome | LCC | Neuroradiology | COMPLEX | TINF2 | CEREBRORETINAL MICROANGIOPATHY | CLINICAL NEUROLOGY | RETINOPATHY | COMPONENT | MUTATIONS | APLASTIC-ANEMIA | Calcinosis - genetics | Retinal Diseases - genetics | Calcinosis - diagnosis | Leukoencephalopathies - genetics | Calcinosis - complications | Seizures - genetics | Humans | Family Health | Male | Tomography, X-Ray Computed | Brain Neoplasms - complications | Seizures - complications | Telomere-Binding Proteins - genetics | Leukoencephalopathies - diagnosis | Central Nervous System Cysts - diagnosis | Female | Ophthalmology | Ataxia - genetics | Retinal Diseases - diagnosis | Retinal Diseases - complications | Brain Neoplasms - diagnosis | Brain Neoplasms - genetics | Seizures - diagnosis | Mutation - genetics | Ataxia - diagnosis | Central Nervous System Cysts - genetics | Magnetic Resonance Imaging | Muscle Spasticity - complications | Leukoencephalopathies - complications | Muscle Spasticity - diagnosis | Central Nervous System Cysts - complications | Ataxia - complications | Muscle Spasticity - genetics | Complications and side effects | Care and treatment | Epilepsy | Development and progression | Research | Leukoencephalopathy | Health aspects | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 969 - 977
Progressive limb spasticity and cerebellar ataxia are frequently found together in clinical practice and form a heterogeneous group of degenerative disorders... 
genetic | spasticity | leukodystrophy | NKX6-2 | ataxia | recessive | IDENTITY | HUMAN BRAIN | WHITE-MATTER | GENE | ABNORMALITIES | GENETICS & HEREDITY | REPRESSOR ACTIVITY | PSYCHIATRIC-DISORDERS | GTX | MOTOR-NEURON | HOMEODOMAIN PROTEIN | Brain - embryology | Humans | Amino Acid Transport Systems, Acidic - deficiency | Infant | Intellectual Disability - complications | Male | Psychomotor Disorders - complications | Gene Regulatory Networks | Intellectual Disability - genetics | Brain - metabolism | Young Adult | Mitochondrial Diseases - complications | Psychomotor Disorders - genetics | Antiporters - genetics | Adult | Female | Child | Hereditary Central Nervous System Demyelinating Diseases - genetics | Optic Atrophy - genetics | Spinocerebellar Ataxias - genetics | Antiporters - deficiency | Mitochondrial Diseases - genetics | Amino Acid Sequence | Spinocerebellar Ataxias - complications | Optic Atrophy - complications | Homeodomain Proteins - chemistry | Mutation - genetics | Homeodomain Proteins - genetics | Phenotype | Pedigree | Muscle Spasticity - complications | Amino Acid Transport Systems, Acidic - genetics | Hereditary Central Nervous System Demyelinating Diseases - complications | Muscle Spasticity - genetics | Causes of | Ataxia | Genetic aspects | Gene mutations | Health aspects | Index Medicus | Report
Journal Article
Annals of Neurology, ISSN 0364-5134, 10/2014, Volume 76, Issue 4, pp. 581 - 593
Objective: Recently, Christianson syndrome (CS) has been determined to be caused by mutations in the X-linked Na+/H+ exchanger 6 (NHE6). We aimed to determine... 
ANGELMAN-LIKE SYNDROME | WIDE ASSOCIATION SCAN | LINKED MENTAL-RETARDATION | SODIUM/PROTON EXCHANGER | DEFICIT HYPERACTIVITY DISORDER | FAMILIES | EPILEPSY | NA+/H+ EXCHANGER | NATURAL-HISTORY | NEUROSCIENCES | CLINICAL NEUROLOGY | SLC9A6 GENE | Microcephaly - genetics | Humans | Child, Preschool | Genetic Diseases, X-Linked - complications | Intellectual Disability - complications | Male | Developmental Disabilities - genetics | Electroencephalography | Brain - growth & development | Epilepsy - etiology | Ocular Motility Disorders - genetics | Autistic Disorder - etiology | Intellectual Disability - genetics | Young Adult | Developmental Disabilities - pathology | Microcephaly - pathology | Epilepsy - genetics | Female | Genetic Diseases, X-Linked - genetics | Sodium-Hydrogen Exchangers - genetics | Ataxia - genetics | Child | Ataxia - pathology | Autistic Disorder - genetics | Microcephaly - complications | Ocular Motility Disorders - pathology | Intellectual Disability - pathology | Genotype | Mutation - genetics | Disease Progression | Epilepsy - complications | Magnetic Resonance Imaging | Regression Analysis | Phenotype | Adolescent | Brain - pathology | Genetic Diseases, X-Linked - pathology | Ataxia - complications | Ocular Motility Disorders - complications | Developmental Disabilities - complications | Epilepsy - pathology | Autism | Behavior | Mutation | Index Medicus
Journal Article
Epilepsia, ISSN 0013-9580, 02/2018, Volume 59, Issue 2, pp. 389 - 402
ObjectivePathogenic SLC6A1 variants were recently described in patients with myoclonic atonic epilepsy (MAE) and intellectual disability (ID). We set out to... 
epilepsy | MAE | epilepsy genetics | SLC | 6A1 | SLC6A1 | MYOCLONIC-ASTATIC EPILEPSY | ATTENTION | GABA TRANSPORTERS | ILAE COMMISSION | CLASSIFICATION | TERMINOLOGY | CLINICAL NEUROLOGY | CHILDHOOD ABSENCE EPILEPSY | INTELLECTUAL DISABILITY | SEIZURES | POSITION PAPER | Epilepsy, Generalized - genetics | Epilepsies, Partial - drug therapy | Humans | Child, Preschool | Intellectual Disability - complications | Male | Electroencephalography | Neurodevelopmental Disorders - genetics | Epilepsy, Generalized - complications | Mutation, Missense | Epilepsies, Partial - physiopathology | Intellectual Disability - genetics | Young Adult | Adult | Female | Valproic Acid - therapeutic use | Language Development Disorders - physiopathology | Ataxia - genetics | Child | Epilepsies, Myoclonic - genetics | Epilepsies, Partial - complications | Ataxia - physiopathology | Genetic Association Studies | Language Development Disorders - genetics | Neurodevelopmental Disorders - complications | Anticonvulsants - therapeutic use | Epilepsies, Myoclonic - physiopathology | Treatment Outcome | Epilepsies, Myoclonic - complications | Language Development Disorders - complications | Intellectual Disability - physiopathology | GABA Plasma Membrane Transport Proteins - genetics | Phenotype | Epilepsy, Generalized - physiopathology | Epilepsy, Generalized - drug therapy | Adolescent | Ataxia - complications | Epilepsies, Myoclonic - drug therapy | Epilepsies, Partial - genetics | Mutation | Cohort Studies | Medical research | Divalproex | Epilepsy | Medicine, Experimental | Genetic aspects | Seizures (Medicine) | Valproic acid | Phenotypes | Convulsions & seizures | Sleep | Language | EEG | Cognitive ability | Speech | Ataxia | Seizures | Index Medicus | Life Sciences | Genetics | Human genetics
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 09/2016, Volume 99, Issue 3, pp. 735 - 743
Journal Article