Disease: Infantile convulsions and paroxysmal choreoathetosis- familial
- <em>GNAO1</em>-Related Disorder
- <em>PRRT2</em> mutation in a Japanese woman: Adult-onset focal epilepsy coexisting with movement disorders and cerebellar atrophy
- <em>PRRT2</em>-Associated Paroxysmal Movement Disorders
- A female patient with a hot spot mutation of PRRT2 gene suffering from several types of epileptic seizures in infancy
- A Girl with PRRT2 Mutation Presenting with Benign Familial Infantile Seizures Followed by Autistic Regression
- A locus for paroxysmal kinesigenic dyskinesia maps to human chromosome 16
- A new case of concurrent existence of PRRT2-associated paroxysmal movement disorders with c.649dup variant and 16p11.2 microdeletion syndrome
- A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study
- A second paroxysmal kinesigenic choreoathetosis locus (EKD2) mapping on 16q13-q22.1 indicates a family of genes which give rise to paroxysmal disorders on human chromosome 16
- Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family
- Benign familial infantile convulsions: phenotypic variability in a family
- Benign familial infantile seizures
- Benign familial infantile seizures: further delineation of the syndrome
- Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series
- Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation
- Benign infantile seizures and paroxysmal dyskinesia: a well-defined familial syndrome
- Characteristics of infantile convulsions and choreoathetosis syndrome caused by <em>PRRT2</em> mutation
- Characteristics of infantile convulsions and choreoathetosis syndrome caused by PRRT2 mutation
- Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations
- Clinical and genetic analysis of 23 Chinese children with epilepsy associated with KCNQ2 gene mutations
- Clinical features and PRRT2 mutations in infantile convulsions with paroxysmal choreoathetosis
- Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations
- Co-occurrence of infantile epileptic seizures and childhood paroxysmal choreoathetosis in one family: clinical, EEG, and SPECT characterization of episodic events
- Co-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis
- Defining and refining the phenotype of PRRT2 mutations
- Eleven cases of paroxysmal kinesigenic choreoathetosis; correlation with benign infantile convulsions
- Familial (idiopathic) paroxysmal dyskinesias: an update
- Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16
- Familial Paroxysmal Kinesigenic Dyskinesia - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
- Familial Paroxysmal Kinesigenic Dyskinesia – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
- Familial paroxysmal kinesigenic dyskinesia. A case description
- Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine
- Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis
- Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes
- Glucose Transporter Type 1 Deficiency Syndrome
- GLUT1 deficiency syndrome 2013: current state of the art
- iCCA: a new diagnostic approach for a new therapeutic management!
- Identification and cloning of putative human neuronal voltage-gated calcium channel gamma-2 and gamma-3 subunits: neurologic implications
- Idiopathic epilepsy and paroxysmal dyskinesia
- Infantile convulsions and paroxysmal choreoathetosis in a consanguineous family
- Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion
- Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family
- Laparoscopic versus open liver resections for intrahepatic cholangiocarcinoma and gallbladder cancer: the Mayo clinic experience
- Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome
- Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases
- Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies
- Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression
- New family with paroxysmal exercise-induced dystonia and epilepsy
- 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
- Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy
- Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome
- Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation
- Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes
- Paroxysmal disorders associated with PRRT2 mutations shake up expectations on ion channel genes
- Paroxysmal dyskinesias
- Paroxysmal dyskinesias as a paradigm of paroxysmal movement disorders
- Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1
- Paroxysmal kinesigenic choreoathetosis: evidence of linkage to the pericentromeric region of chromosome 16 in four Chinese families
- Paroxysmal kinesigenic choreoathetosis: from first discovery in 1892 to genetic linkage with benign familial infantile convulsions
- Paroxysmal kinesigenic dyskinesia: a channelopathy? Study of 19 cases
- Paroxysmal kinesigenic dyskinesia: cortical or non-cortical origin
- Paroxysmal kinesigenic dyskinesias
- Penetrance estimation of PRRT2 variants in paroxysmal kinesigenic dyskinesia and infantile convulsions
- Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis
- Phenotypic and genetic spectrum of SCN8A-related disorders, treatment options, and outcomes
- Phenotypic overlap among paroxysmal dyskinesia subtypes: Lesson from a family with PRRT2 gene mutation
- Presynaptic PRRT2 Deficiency Causes Cerebellar Dysfunction and Paroxysmal Kinesigenic Dyskinesia
- PRRT2 gene-related paroxysmal disorders
- PRRT2 is mutated in familial and non-familial benign infantile seizures
- PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine
- PRRT2 mutation and infantile convulsions
- PRRT2 mutations are the major cause of benign familial infantile seizures
- PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
- PRRT2 mutations cause hemiplegic migraine
- PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype-phenotype correlation reanalysis in literatures
- PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine
- PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia
- PRRT2 mutations: a major cause of paroxysmal kinesigenic dyskinesia in the European population
- PRRT2 mutations: exploring the phenotypical boundaries
- PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions
- PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures
- PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia
- Re-evaluation of PRRT2 mutations in paroxysmal disorders
- Recent advances of genetic research on paroxysmal kinesigenic dyskinesias
- Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome
- Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy
- Temporal Changes in Cholangiocarcinoma Incidence and Mortality in the United States from 2001 to 2017
- The evolving spectrum of PRRT2-associated paroxysmal diseases
- The Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children
- The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy
- The PRRT2 mutation c.649dupC is the so far most frequent cause of benign familial infantile convulsions
- Three siblings with self-limited familial infantile epilepsy with PRRT2 mutation: A case series
- Unusual variability of PRRT2 linked phenotypes within a family