(Q55671564)

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Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy

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12 February 2020

Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21922598%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

temporal lobe epilepsy

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3

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12 February 2020

Matthew R Sapio

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12 February 2020

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Annick Salzmann

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12 February 2020

Michel Guipponi

2

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12 February 2020

Lloyd D Fricker

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12 February 2020

Carmen Lambercy

6

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12 February 2020

Catherine Buresi

7

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12 February 2020

Bouchra Ouled Amar Bencheikh

8

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12 February 2020

Fatiha Lahjouji

9

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12 February 2020

Reda Ouazzani

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12 February 2020

Arielle Crespel

11

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12 February 2020

Alain Malafosse

13

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12 February 2020

Denys Chaigne

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12 February 2020

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31 October 2011

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12 February 2020

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12 February 2020

33

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12 February 2020

1

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12 February 2020

124-135

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12 February 2020

A novel susceptibility locus at 2p24 for generalised epilepsy with febrile seizures plus.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Fever, genes, and epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Clinical diversity of hereditary Duane's retraction syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Novel locus on chromosome 12q22-q23.3 responsible for familial temporal lobe epilepsy associated with febrile seizures

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Detecting polymorphisms and mutations in candidate genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2-q26.33.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Imaging and epilepsy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

A map of human genome variation from population-scale sequencing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Identification and distribution of mouse carboxypeptidase A-6.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Brain neurotensin, psychostimulants, and stress--emphasis on neuroanatomical substrates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal segment of the long arm of chromosome 20

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Autosomal dominant lateral temporal epilepsy: two families with novel mutations in the LGI1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Familial mesial temporal lobe epilepsy maps to chromosome 4q13.2-q21.3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Most rare missense alleles are deleterious in humans: implications for complex disease and association studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Galanin and epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Characterization of carboxypeptidase A6, an extracellular matrix peptidase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Substrate specificity of human carboxypeptidase A6.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Finding genetic contributions to sporadic disease: a recessive locus at 12q24 commonly contributes to patent ductus arteriosus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

New locus for febrile seizures with absence epilepsy on 3p and a possible modifier gene on 18p.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

A locus for simple pure febrile seizures maps to chromosome 6q22-q24.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Genetic variation in an individual human exome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

A locus for febrile seizures (FEB3) maps to chromosome 2q23-24

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Mechanisms of human inherited epilepsies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Brain angiotensin II: new developments, unanswered questions and therapeutic opportunities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Common vs. rare allele hypotheses for complex diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

Radicals r'aging

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

21 January 2018

A novel GABRG2 mutation associated with febrile seizures

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

7 January 2021

based on heuristic

inferred from DOI database lookup

A Novel Locus for Generalized Epilepsy With Febrile Seizures Plus in French Families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

7 January 2021

based on heuristic

inferred from DOI database lookup

The prevalence and incidence of convulsive disorders in children

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a novel locus for febrile seizures and epilepsy on chromosome 21q22

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

7 January 2021

based on heuristic

inferred from DOI database lookup

Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

7 January 2021

based on heuristic

inferred from DOI database lookup

Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification and characterization of three members of the human metallocarboxypeptidase gene family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21613

7 January 2021

based on heuristic

inferred from DOI database lookup

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