(Q35001819)

5 August 2017

Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy (English)

1 reference

5 August 2017

1 reference

Cas Simons

2

0 references

Adeline Vanderver

object named as

Adeline Vanderver

1

0 references

Sean Grimmond

object named as

Sean M Grimmond

8

0 references

David K Miller

7

object named as

David Miller

1 reference

5 August 2017

Johanna L Schmidt

3

1 reference

5 August 2017

Philip L Pearl

4

1 reference

5 August 2017

Miriam Bloom

5

1 reference

5 August 2017

Bennett Lavenstein

6

1 reference

5 August 2017

Ryan J Taft

9

1 reference

5 August 2017

10 October 2013

1 reference

5 August 2017

1 reference

5 August 2017

50

1 reference

5 August 2017

1

1 reference

5 August 2017

112-114

1 reference

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

5 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303471

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303471

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303471

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303471

A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303471

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4303471

Defining and categorizing leukoencephalopathies of unknown origin: MR imaging approach

9 December 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24120652

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.PEDIATRNEUROL.2013.06.024

1 reference

5 August 2017

1 reference

5 August 2017

1 reference