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 …
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 …
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 …
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 …
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 …
and may arise from dysfunction of various types of voltage-and ligand-gated ion channels …
Mechanisms of human inherited epilepsies
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 …
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 …
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 …
encoding Ca 2+ channel subunits. This review deals with known human and mouse calcium …
Purkinje cell signaling deficits in animal models of ataxia
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 …
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
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 …
seizures and cerebellar ataxia. A mutation in Cacna2d2, the gene encoding the α2δ-2 …