[HTML][HTML] Synaptic genes and neurodevelopmental disorders: From molecular mechanisms to developmental strategies of behavioral testing
C Michetti, A Falace, F Benfenati, A Fassio - Neurobiology of Disease, 2022 - Elsevier
Synaptopathies are a class of neurodevelopmental disorders caused by modification in
genes coding for synaptic proteins. These proteins oversee the process of …
genes coding for synaptic proteins. These proteins oversee the process of …
The 'dispanins' and related proteins in physiology and neurological disease
The dispanins are a family of 15 transmembrane proteins that have diverse and often
unclear physiological functions. Many dispanins, including synapse differentiation induced …
unclear physiological functions. Many dispanins, including synapse differentiation induced …
Proline-rich transmembrane protein 2 knock-in mice present dopamine-dependent motor deficits
D Hatta, K Kanamoto, S Makiya… - The Journal of …, 2023 - academic.oup.com
Mutations of proline-rich transmembrane protein 2 (PRRT2) lead to dyskinetic disorders
such as paroxysmal kinesigenic dyskinesia (PKD), which is characterized by attacks of …
such as paroxysmal kinesigenic dyskinesia (PKD), which is characterized by attacks of …
Clinical and genetic analysis of benign familial infantile epilepsy caused by PRRT2 gene variant
Y Gu, D Mei, X Wang, A Ma, J Kong, Y Zhang - Frontiers in Neurology, 2023 - frontiersin.org
Objective This study presents the clinical phenotypes and genetic analysis of seven patients
with benign familial infantile epilepsy (BFIE) diagnosed by whole-exome sequencing …
with benign familial infantile epilepsy (BFIE) diagnosed by whole-exome sequencing …
[HTML][HTML] Acetazolamide Improves Episodic Ataxia in a Patient with Non‐Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants
L Martorell, A Macaya, B Pérez‐Dueñas… - Movement Disorders …, 2022 - ncbi.nlm.nih.gov
Variants in PRRT2 (proline-rich transmembrane protein 2, OMIM* 614386) can manifest as a
variety of clinical phenotypes, including convulsions with paroxysmal choreoathetosis …
variety of clinical phenotypes, including convulsions with paroxysmal choreoathetosis …
Ultrasound-induced seizures in a mouse model of KCNQ2-NEO-DEE
L Brun, E Borloz, MS Felix, JL Durand, L Villard - Epilepsy Research, 2023 - Elsevier
Purpose KCNQ2 neonatal developmental and epileptic encephalopathy (NEO-DEE) is
characterized by intractable seizures accompanied by an abnormal neurodevelopment. In a …
characterized by intractable seizures accompanied by an abnormal neurodevelopment. In a …
Translating Genetic Discovery into a Mechanistic Understanding of Pediatric Movement Disorders: Lessons from Genetic Dystonias and Related Disorders
WS Lin - Advanced Genetics, 2023 - Wiley Online Library
The era of next‐generation sequencing has increased the pace of gene discovery in the
field of pediatric movement disorders. Following the identification of novel disease‐causing …
field of pediatric movement disorders. Following the identification of novel disease‐causing …
Early Onset Paroxysmal Dyskinesia in PRRT2‐Related Disorders.
Y Vaia, R Previtali, S Malgesini… - Movement …, 2023 - search.ebscohost.com
Abstract In 2014, Ebrahimi-Fakhari et al [8] reported the largest study on I PRRT2 i, including
1444 I PRRT2 i-mutated patients with a mean age at onset of seizures of 6.3±3.2 months …
1444 I PRRT2 i-mutated patients with a mean age at onset of seizures of 6.3±3.2 months …