Hemiplegic Migraine Associated With PRRT2 Variations

Familial hemiplegic migraine with a PRRT2 mutation: Phenotypic variations and carbamazepine efficacy

(2020) Sato Suzuki-Muromoto et al.   BRAIN & DEVELOPMENT

Higher burden of rare frameshift indels in genes related to synaptic transmission separate familial hemiplegic migraine from common types of migraine

(2020) Andreas Hoiberg Rasmussen et al.   JOURNAL OF MEDICAL GENETICS

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

(2020) Li Yang et al.   Brain and Behavior

Language characterization in 16p11.2 deletion and duplication syndromes

(2020) So Hyun Kim et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

16p11.2 Copy Number Variations and Neurodevelopmental Disorders

(2020) Benjamin Rein et al.   TRENDS IN NEUROSCIENCES

PRRT 2 missense mutations cluster near C‐terminus and frequently lead to protein mislocalization

(2019) Meng‐Han Tsai et al.   EPILEPSIA

Advances in genetics of migraine

(2019) Heidi G. Sutherland et al.   JOURNAL OF HEADACHE AND PAIN

PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity

(2018) Floriana Fruscione et al.   BRAIN

Headache Classification Committee of the International Headache Society (IHS) The International Classification of Headache Disorders, 3rd edition

(2018)   CEPHALALGIA

Constitutive Inactivation of the PRRT2 Gene Alters Short-Term Synaptic Plasticity and Promotes Network Hyperexcitability in Hippocampal Neurons

(2018) Pierluigi Valente et al.   CEREBRAL CORTEX

Clinical spectrum of hemiplegic migraine and chances of finding a pathogenic mutation

(2018) Nadine Pelzer et al.   NEUROLOGY

Pathophysiological mechanisms of migraine and epilepsy: Similarities and differences

(2018) Massimo Mantegazza et al.   NEUROSCIENCE LETTERS

The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations

(2017) Caterina Michetti et al.   NEUROBIOLOGY OF DISEASE

Hyperactivity and male-specific sleep deficits in the 16p11.2 deletion mouse model of autism

(2016) Christopher C. Angelakos et al.   Autism Research

The Number of Genomic Copies at the 16p11.2 Locus Modulates Language, Verbal Memory, and Inhibition

(2016) Loyse Hippolyte et al.   BIOLOGICAL PSYCHIATRY

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

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

PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function

(2016) Flavia Valtorta et al.   TRENDS IN NEUROSCIENCES

PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects

(2016) Yo-Tsen Liu et al.   Oncotarget

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

(2016) Pierluigi Valente et al.   Cell Reports

The evolving spectrum ofPRRT2-associated paroxysmal diseases

(2015) Darius Ebrahimi-Fakhari et al.   BRAIN

Severe phenotypic spectrum of biallelic mutations inPRRT2gene

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

The Prevalence and Characteristics of Primary Headache and Dream-Enacting Behaviour in Japanese Patients with Narcolepsy or Idiopathic Hypersomnia: A Multi-Centre Cross-Sectional Study

(2015) Keisuke Suzuki et al.   PLoS One

Re-evaluation of PRRT2 mutations in paroxysmal disorders

(2014) Xia Nan Guo et al.   JOURNAL OF NEUROLOGY

Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis

(2013) Xiaoling Yang et al.   BMC 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

Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine

(2012) RUSSELL C DALE et al.   DEVELOPMENTAL MEDICINE AND CHILD 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

Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance

(2012) J. Friedman et al.   NEUROLOGY

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine

(2012) C. Marini et al.   NEUROLOGY

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

(2012) R. Cloarec et al.   NEUROLOGY

PRRT2 mutations: A major cause of paroxysmal kinesigenic dyskinesia in the European population

(2012) A. Meneret et al.   NEUROLOGY

PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

(2012) A. R. Gardiner et al.   NEUROLOGY

PRRT2 mutations cause hemiplegic migraine

(2012) F. Riant et al.   NEUROLOGY

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

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

Mutations inPRRT2result in paroxysmal dyskinesias with marked variability in clinical expression

(2011) Qing Liu et al.   JOURNAL OF MEDICAL GENETICS

Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management

(2011) Michael Bjørn Russell et al.   LANCET NEUROLOGY