Novel and de novo point and large microdeletion mutation in PRRT2 ‐related epilepsy

Atypical neural variability in carriers of 16p11.2 copy number variants

(2019) Reem Al-Jawahiri et al.   Autism Research

Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

(2019) M. T. Siu et al.   Clinical Epigenetics

PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia

(2019) Akihisa Okumura et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Phenotypes, genotypes, and the management of paroxysmal movement disorders

(2018) Laura Silveira-Moriyama et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability

(2018) Wen Li et al.   Brain and Behavior

Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation

(2018) Nicolas Legris et al.   Journal of Stroke & Cerebrovascular Diseases

Focal seizures and epileptic spasms in a child with Down syndrome from a family with a PRRT2 mutation

(2016) Ayuko Igarashi et al.   BRAIN & DEVELOPMENT

Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy

(2016) Ilenia Maini et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

A Novel Topology of Proline-rich Transmembrane Protein 2 (PRRT2)

(2016) Pia Rossi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Progressive ataxia related to PRRT2 gene mutation

(2016) Giovanni Castelnovo et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

PRRT2 Is a Key Component of the Ca 2+ -Dependent Neurotransmitter Release Machinery

(2016) Pierluigi Valente et al.   Cell Reports

16p11.2 Deletion Syndrome Mice Display Sensory and Ultrasonic Vocalization Deficits During Social Interactions

(2015) Mu Yang et al.   Autism Research

The evolving spectrum ofPRRT2-associated paroxysmal diseases

(2015) Darius Ebrahimi-Fakhari et al.   BRAIN

PRRT2 Mutant Leads to Dysfunction of Glutamate Signaling

(2015) Ming Li et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Severe phenotypic spectrum of biallelic mutations inPRRT2gene

(2015) Marion Delcourt et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures

(2014) Wen Zheng et al.   MOLECULAR NEUROBIOLOGY

Child Neurology: PRRT2-associated movement disorders and differential diagnoses

(2014) D. Ebrahimi-Fakhari et al.   NEUROLOGY

PRRT2 mutations: exploring the phenotypical boundaries

(2013) T. Djemie et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome

(2013) Axel Weber et al.   NEUROGENETICS

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

(2012) Sarah E. Heron et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis

(2012) Atsushi Ishii et al.   BRAIN & DEVELOPMENT

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

Homozygous c.649dupC mutation inPRRT2worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences

(2012) Angelo Labate et al.   EPILEPSIA

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

(2012) R. Cloarec et al.   NEUROLOGY

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

(2012) Hsien-Yang Lee et al.   Cell Reports

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

(2011) Wan-Jin Chen et al.   NATURE GENETICS