Development of the locomotor network in zebrafish

P Drapeau, L Saint-Amant, RR Buss, M Chong… - Progress in …, 2002 - Elsevier
The zebrafish is a leading model for studies of vertebrate development and genetics. Its
embryonic motor behaviors are easy to assess (eg for mutagenic screens), the embryos …

Primary episodic ataxias: diagnosis, pathogenesis and treatment

JC Jen, TD Graves, EJ Hess, MG Hanna, RC Griggs… - Brain, 2007 - academic.oup.com
Primary episodic ataxias are autosomal dominant channelopathies that manifest as attacks
of imbalance and incoordination. Mutations in two genes, KCNA1 and CACNA1A, cause the …

Genetics of headaches

AMJM Van Den Maagdenberg, GM Terwindt… - Handbook of Clinical …, 2010 - Elsevier
Insight into the molecular mechanisms involved in primary headaches is important to identify
drug targets for improving treatment of patients, but essentially lacking. Genetic research is …

The biology of epilepsy genes

JL Noebels - Annual review of neuroscience, 2003 - annualreviews.org
▪ Abstract Mutations in over 70 genes now define biological pathways leading to epilepsy,
an episodic dysrhythmia of the cerebral cortex marked by abnormal network …

Role of voltage-gated calcium channels in epilepsy

GW Zamponi, P Lory, E Perez-Reyes - Pflügers Archiv-European Journal …, 2010 - Springer
It is well established that idiopathic generalized epilepsies (IGEs) show a polygenic origin
and may arise from dysfunction of various types of voltage-and ligand-gated ion channels …

Mechanisms of human inherited epilepsies

CA Reid, SF Berkovic, S Petrou - Progress in neurobiology, 2009 - Elsevier
It is just over a decade since the discovery of the first human epilepsy associated ion
channel gene mutation. Since then mutations in at least 25 different genes have been …

Voltage-gated calcium channels and idiopathic generalized epilepsies

H Khosravani, GW Zamponi - Physiological reviews, 2006 - journals.physiology.org
The idiopathic generalized epilepsies encompass a class of epileptic seizure types that
exhibit a polygenic and heritable etiology. Advances in molecular biology and genetics have …

Calcium channels and channelopathies of the central nervous system

D Pietrobon - Molecular neurobiology, 2002 - Springer
Several inherited human neurological disorders can be caused by mutations in genes
encoding Ca 2+ channel subunits. This review deals with known human and mouse calcium …

Purkinje cell signaling deficits in animal models of ataxia

E Hoxha, I Balbo, MC Miniaci, F Tempia - Frontiers in synaptic …, 2018 - frontiersin.org
Purkinje cell (PC) dysfunction or degeneration is the most frequent finding in animal models
with ataxic symptoms. Mutations affecting intrinsic membrane properties can lead to ataxia …

The ducky mutation in Cacna2d2 results in altered Purkinje cell morphology and is associated with the expression of a truncated α2δ-2 protein with abnormal function

J Brodbeck, A Davies, JM Courtney, A Meir… - Journal of Biological …, 2002 - ASBMB
The mouse mutant ducky, a model for absence epilepsy, is characterized by spike-wave
seizures and cerebellar ataxia. A mutation in Cacna2d2, the gene encoding the α2δ-2 …