منابع مشابه
Is reading epilepsy inherited?
A patient with primary reading epilepsy is reported. Her daughter has major and minor seizures and shows pattern- and photosensitivity. Both have discharges during reading. The implications of these findings are discussed.
متن کاملMolecular basis of inherited epilepsy.
E pilepsy is a common, paroxysmal, and heterogeneous neurological disorder. Many factors, including complex genetic influences, contribute to the pathogenesis of epilepsy. However, several epilepsy syndromes are caused by mutations in single genes (Table). Most epilepsy-associated genes that have been identified within the past 5 years encode ion channels. This review illustrates the progress i...
متن کاملThe KCl-cotransporter KCC2 linked to epilepsy.
In the mature brain, the neurotransmitter GABA can cause a postsynaptic hyperpolarization via activation of chloride permeant GABAA receptor channels. This hyperpolarizing response critically depends on chloride extrusion via the KCl-cotransporter KCC2 [1]. Its knockdown in mice impairs synaptic inhibition by changing the electrochemical potential for chloride and thus increases neuronal excita...
متن کاملMolecular Basis of an Inherited Epilepsy
Epilepsy is a common neurological condition that reflects neuronal hyperexcitability arising from largely unknown cellular and molecular mechanisms. In generalized epilepsy with febrile seizures plus, an autosomal dominant epilepsy syndrome, mutations in three genes coding for voltage-gated sodium channel alpha or beta1 subunits (SCN1A, SCN2A, SCN1B) and one GABA receptor subunit gene (GABRG2) ...
متن کاملPositional identification of variants of Adamts16 linked to inherited hypertension
A previously reported blood pressure (BP) quantitative trait locus on rat Chromosome 1 was isolated in a short congenic segment spanning 804.6 kb. The 804.6 kb region contained only two genes, LOC306664 and LOC306665. LOC306664 is predicted to translate into A Disintegrin-like and Metalloproteinase with Thrombospondin Motifs-16 (Adamts16). LOC306665 is a novel gene. All predicted exons of both ...
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ژورنال
عنوان ژورنال: Nature Reviews Neuroscience
سال: 2005
ISSN: 1471-003X,1471-0048
DOI: 10.1038/nrn1602