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EGAS00001000190-sc-20130520 - samples

ABSTRACT: We are sequencing the exomes of patients with paroxysmal neurological disorders mainly focusing on migraine and epilepsy. Cases are collected from performance sites of members of the International Headache Genetics consortium and EuroEPINOMICS. Most cases have a strong family history. The study sample will include both cases and controls.

PROVIDER: EGAD00001000407 | EGA |

REPOSITORIES: EGA

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Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathy.

Dejanovic Borislav B Djémié Tania T Grünewald Nora N Suls Arvid A Kress Vanessa V Hetsch Florian F Craiu Dana D Zemel Matthew M Gormley Padhraig P Lal Dennis D Myers Candace T CT Mefford Heather C HC Palotie Aarno A Helbig Ingo I Meier Jochen C JC De Jonghe Peter P Weckhuysen Sarah S Schwarz Guenter G

EMBO molecular medicine 20151201 12

Synaptic inhibition is essential for shaping the dynamics of neuronal networks, and aberrant inhibition plays an important role in neurological disorders. Gephyrin is a central player at inhibitory postsynapses, directly binds and organizes GABAA and glycine receptors (GABAARs and GlyRs), and is thereby indispensable for normal inhibitory neurotransmission. Additionally, gephyrin catalyzes the synthesis of the molybdenum cofactor (MoCo) in peripheral tissue. We identified a de novo missense muta ...[more]

PMID: 26613940

Publication: 1/2

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