No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy

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A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits.EF-hand domain containing 2 (Efhc2) is crucial for distal segmentation of pronephros in zebrafish

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Q50101851-B6A21015-DCC2-43B9-BE9D-D1F768E147F5 Q57814132-F0169AA2-E94D-4917-8B39-CDB9D7C2D3DD

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No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy

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2015年論文

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2015年論文

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No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy

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No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy

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No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy

@ast

No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy

@en

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No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy

@ast

No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy

@en

P1476

No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy

@en

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Balcan Erdal

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Bozyiğit Ferda

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Onur Ece

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Tuğrul Berrin

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Vatandaş Gülşen

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Yılmaz Hikmet

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P2860

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability

A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy.

Channelopathies in idiopathic epilepsy.

Genetic mechanisms in idiopathic epilepsies.

Functional characterisation of missense variations in the Kir4.1 potassium channel (KCNJ10) associated with seizure susceptibility.

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scholarly article

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10.4314/AHS.V15I4.20

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2015-12-01T00:00:00Z

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26958022

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No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy

about

P2860

P2860

No relation between EFHC2 gene polymorphism and Idiopathic generalized epilepsy

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932