New avenues in molecular genetics for the diagnosis and application of therapeutics to the epilepsies (Q92542992)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31400936%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

review article

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title

New avenues in molecular genetics for the diagnosis and application of therapeutics to the epilepsies (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31400936%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

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Pedro H M Magalhães

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30 April 2020

Helena T Moraes

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30 April 2020

Maria C P Athie

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30 April 2020

Rodrigo Secolin

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30 April 2020

Iscia Lopes-Cendes

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30 April 2020

publication date

7 August 2019

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30 April 2020

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30 April 2020

page(s)

106428

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Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy

7 January 2021

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West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutation

7 January 2021

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Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

7 January 2021

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Targeted next generation sequencing as a diagnostic tool in epileptic disorders

7 January 2021

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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

7 January 2021

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A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

7 January 2021

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Frameshift mutations of the ARX gene in familial Ohtahara syndrome

7 January 2021

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Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study

7 January 2021

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De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.

7 January 2021

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Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion

7 January 2021

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Recessive twinkle mutations cause severe epileptic encephalopathy

7 January 2021

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De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

7 January 2021

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Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy

7 January 2021

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A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

7 January 2021

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Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2).

7 January 2021

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Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

7 January 2021

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Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

7 January 2021

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Myoclonic encephalopathy in the CDKL5 gene mutation.

7 January 2021

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Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

7 January 2021

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GRIN2A mutations cause epilepsy-aphasia spectrum disorders

7 January 2021

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De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

7 January 2021

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CHD2 mutations in Lennox-Gastaut syndrome

7 January 2021

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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

7 January 2021

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Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia

7 January 2021

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Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Rare copy number variants are an important cause of epileptic encephalopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindness

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

FARS2 mutation and epilepsy: Possible link with early-onset epileptic encephalopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

FOXG1 is responsible for the congenital variant of Rett syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

GRIN2D variants in three cases of developmental and epileptic encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

A unique phenotype of 2q24.3-2q32.1 duplication: early infantile epileptic encephalopathy without mesomelic dysplasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

The variable phenotypes of KCNQ-related epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

De novo gain-of-function variants in KCNT2 as a novel cause of developmental and epileptic encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Phenotypic Characterization of KCTD3-related Developmental Epileptic Encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Genes of early-onset epileptic encephalopathies: from genotype to phenotype

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Epileptic encephalopathies in infants and children

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Early-onset encephalopathy and cortical myoclonus in a boy with MECP2 gene mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Copy number variants in adult patients with Lennox-Gastaut syndrome features

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

De novo 5q14.3 translocation 121.5-kb upstream of MEF2C in a patient with severe intellectual disability and early-onset epileptic encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

NECAP1 loss of function leads to a severe infantile epileptic encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Mutations in PNKP cause microcephaly, seizures and defects in DNA repair

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Polymerase gamma 1 mutations: clinical correlations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

POLG1 manifestations in childhood

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Mutations inPRRT2are not a common cause of infantile epileptic encephalopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

PRRT2 mutations: exploring the phenotypical boundaries.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Mutations of PTPN23 in developmental and epileptic encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Genetic testing in infantile spasms identifies a chromosome 13q deletion and retinoblastoma

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Missense Variants in RHOBTB2 Cause a Developmental and Epileptic Encephalopathy in Humans, and Altered Levels Cause Neurological Defects in Drosophila.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Co-occurring malformations of cortical development and SCN1A gene mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Somatic mosaic deletions involving SCN1A cause Dravet syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

SCN1A mutations and epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

A functional null mutation of SCN1B in a patient with Dravet syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Novel de novo SCN2A mutation in a child with migrating focal seizures of infancy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Mutations in SCN3A cause early infantile epileptic encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Neuroserpin mutation causes electrical status epilepticus of slow-wave sleep

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

SLC25A22 is a novel gene for migrating partial seizures in infancy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

GLUT1 deficiency with delayed myelination responding to ketogenic diet.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

SRPX2 mutations in disorders of language cortex and cognition

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome—Result of Japanese cohort study

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Ohtahara syndrome with emphasis on recent genetic discovery.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

TBC1D24 truncating mutation resulting in severe neurodegeneration.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YEBEH.2019.07.029

10.1016/J.YEBEH.2019.07.029

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31400936%20AND%20SRC:MED&resulttype=core&format=json

30 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:31400936%20AND%20SRC:MED&resulttype=core&format=json