• A Not So Benign Family Pedigree With Hereditary Chorea: A Broader Phenotypic Expression or Additional Picture?
• A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature
• A novel mutation of NKX2-1 affecting 2 generations with hypothyroidism and choreoathetosis: part of the spectrum of brain-thyroid-lung syndrome
• A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea
• A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea
• A Novel PRRT2 Variant in Chinese Patients Suffering from Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsion
• ADCY5 identified as a novel cause of benign hereditary chorea
• ADCY5 Mutations and Benign Hereditary Chorea
• ADCY5 mutations are another cause of benign hereditary chorea
• Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases
• Altered pituitary morphology as a sign of benign hereditary chorea caused by TITF1/NKX2.1 mutations
• Benign familial and non-familial infantile seizures: a study of 64 patients
• Benign familial infantile seizures: further delineation of the syndrome
• Benign hereditary chorea
• Benign hereditary chorea 2: pathological findings in an autopsy case
• Benign hereditary chorea and deletions outside NKX2-1: What's the role of MBIP?
• Benign hereditary chorea revisited: a journey to understanding
• Benign hereditary chorea, not only chorea: a family case presentation
• Benign hereditary chorea: a case report and brief review of inherited choreas
• Benign hereditary chorea: an update
• Benign hereditary chorea: clinical and neuroimaging features in an Italian family
• Benign hereditary chorea: clinical features and long-term follow-up in a Spanish family
• Benign hereditary chorea: clinical, genetic, and pathological findings
• Benign hereditary chorea: clinical, neuroimaging, and genetic findings
• Benign hereditary chorea: dopaminergic brain imaging in patients with a novel intronic NKX2.1 gene mutation
• Benign hereditary chorea: From benign to serious
• Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene
• Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome
• Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation
• Benign infantile seizures and paroxysmal dyskinesia: a well-defined familial syndrome
• Benign paroxysmal torticollis of infancy does not lead to neurological sequelae
• Channelopathy: hypothesis of a common pathophysiologic mechanism in different forms of paroxysmal dyskinesia
• Chorea due to TITF1/NKX2-1 mutation: phenotypical description and therapeutic response in a family
• Clinical and genetic characteristics of late-onset Huntington's disease in a large European cohort
• Clinical and genetic heterogeneity in benign hereditary chorea
• Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation
• Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia
• Clinical manifestation and carbamazepine treatment of patients with paroxysmal kinesigenic choreoathetosis
• Deletion of conserved non-coding sequences downstream from NKX2-1: A novel disease-causing mechanism for benign hereditary chorea
• Deletion of PAX9 and oligodontia: a third family and review of the literature
• Description of an endogamous, multigenerational and extensive family with benign hereditary chorea from the Paisa community
• Differential diagnosis of chorea
• Differential diagnosis of Huntington's disease- neurological aspects of NKX2-1-related disorders
• Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes
• Features Differ Between Paroxysmal Kinesigenic Dyskinesia Patients with PRRT2 and TMEM151A Variants
• Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea
• Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis
• Genetic forms of epilepsies and other paroxysmal disorders
• Hereditary benign chorea: clinical and genetic features of a distinct disease
• Hereditary causes of chorea in childhood
• Heterozygous variants in <em>DCC</em>: Beyond congenital mirror movements
• Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability
• Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences
• Huntington disease and Huntington disease-like in a case series from Brazil
• Identification and functional characterization of a novel mutation in the NKX2-1 gene: comparison with the data in the literature
• Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family
• Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11
• Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene
• Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study
• Movement Disorders in Patients With Genetic Developmental and Epileptic Encephalopathies
• Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases
• Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
• Mutations in TITF-1 are associated with benign hereditary chorea
• Mutations in TITF1 are not relevant to sporadic and familial chorea of unknown cause
• Myoclonic dystonia
• New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families
• New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes
• NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy
• NKX2-1 mutations in brain-lung-thyroid syndrome: a case series of four patients
• NKX2-1 New Mutation Associated With Myoclonus, Dystonia, and Pituitary Involvement
• Nonsense mutation in TITF1 in a Portuguese family with benign hereditary chorea
• Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3
• Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes
• Paroxysmal and cognitive phenotypes in Prrt2 mutant mice
• Paroxysmal disorders associated with PRRT2 mutations shake up expectations on ion channel genes
• Paroxysmal dyskinesias
• Paroxysmal dyskinesias
• Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions
• Paroxysmal kinesigenic dyskinesia: cortical or non-cortical origin
• Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis
• Phenotypic insights into ADCY5-associated disease
• Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation
• PRRT2 gene-related paroxysmal disorders
• PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine
• PRRT2 mutation causes benign familial infantile convulsions
• PRRT2 mutation in Japanese children with benign infantile epilepsy
• PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
• PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population
• PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures
• PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia
• PRRT2-related disorders: further PKD and ICCA cases and review of the literature
• PRRT2: a major cause of infantile epilepsy and other paroxysmal disorders of childhood
• Psychogenic and organic movement disorders in children
• Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation
• Re-evaluation of PRRT2 mutations in paroxysmal disorders
• Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum
• Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy
• Severe phenotypic spectrum of biallelic mutations in PRRT2 gene
• Unusual variability of PRRT2 linked phenotypes within a family
• Vascular chorea in adults and children