(Q40230819)

18 September 2017

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion (English)

1 reference

18 September 2017

Sean Ennis

9

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author name string

Nicholas M Allen

1

1 reference

18 September 2017

Judith Conroy

2

1 reference

18 September 2017

Amre Shahwan

3

1 reference

18 September 2017

Bryan Lynch

4

1 reference

18 September 2017

Raony G Correa

5

1 reference

18 September 2017

Sergio D J Pena

6

1 reference

18 September 2017

Dara McCreary

7

1 reference

18 September 2017

Tiago R Magalhães

8

1 reference

18 September 2017

Sally A Lynch

10

1 reference

18 September 2017

Mary D King

11

1 reference

18 September 2017

9 December 2015

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18 September 2017

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18 September 2017

57

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18 September 2017

e12-7

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18 September 2017

1

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Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

18 September 2017

1 reference

Mutations in KCNT1 cause a spectrum of focal epilepsies.

21 January 2018

1 reference

De novo KCNB1 mutations in epileptic encephalopathy

21 January 2018

1 reference

Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy.

21 January 2018

1 reference

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

21 January 2018

1 reference

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

21 January 2018

1 reference

Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes

21 January 2018

1 reference

X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes

21 January 2018

1 reference

Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy.

21 January 2018

1 reference

Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy

21 January 2018

1 reference

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

21 January 2018

1 reference

Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome

21 January 2018

1 reference

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

21 January 2018

1 reference

The genetic landscape of infantile spasms

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/EPI.13250

1 reference

18 September 2017

1 reference