Lista de obras - Karl Martin Klein - Dominio Público Uruguay

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

artículo científico publicado en 2009

A commonSCN1Asplice-site polymorphism modifies the effect of carbamazepine on cortical excitability-A pharmacogenetic transcranial magnetic stimulation study

artículo científico publicado en 2014

A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence

scientific article published on 01 April 2011

Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.

artículo científico publicado en 2015

Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26.

artículo científico publicado en 2013

Brivaracetam in the treatment of focal and idiopathic generalized epilepsies and of status epilepticus.

artículo científico publicado en 2016

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

artículo científico publicado en 2015

Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany

artículo científico publicado en 2019

Efficacy, Retention, and Tolerability of Brivaracetam in Patients With Epileptic Encephalopathies: A Multicenter Cohort Study From Germany

article

Eslicarbazepine acetate as a therapeutic option in a patient with carbamazepine-induced rash and HLA-A*31:01.

artículo científico publicado en 2017

Evidence for genetic factors in vasovagal syncope: a twin-family study

artículo científico publicado en 2012

Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum

artículo científico publicado en 2012

Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients

artículo científico publicado en 2017

Genetics of vasovagal syncope

artículo científico publicado en 2014

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies

artículo científico publicado en 2017

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

artículo científico publicado en 2016

Intravenous lacosamide for treatment of absence status epilepticus in genetic generalized epilepsy: A case report and review of literature.

artículo científico publicado en 2018

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

artículo científico publicado en 2019

Invasive EEG-electrodes in presurgical evaluation of epilepsies: Systematic analysis of implantation-, video-EEG-monitoring- and explantation-related complications, and review of literature

artículo científico publicado en 2018

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

scientific journal article

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

artículo científico publicado en 2017

New aspects in the field of epilepsy

artículo científico publicado en 2014

Non-invasive EEG evaluation in epilepsy diagnosis.

artículo científico

Personalized translational epilepsy research - Novel approaches and future perspectives: Part I: Clinical and network analysis approaches.

artículo científico publicado en 2017

Personalized translational epilepsy research - Novel approaches and future perspectives: Part II: Experimental and translational approaches.

artículo científico publicado en 2017

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

artículo científico publicado en 2016

Postmarketing experience with brivaracetam in the treatment of epilepsies: A multicenter cohort study from Germany.

artículo científico publicado en 2017

Precision medicine in genetic epilepsies: break of dawn?

artículo científico publicado en 2016

Prescribing practice of pregabalin/gabapentin in pain therapy: an evaluation of German claim data

article

Primary care electronic medical records can be used to predict risk and identify potentially modifiable factors for early and late death in adult onset epilepsy

artículo científico publicado en 2020

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

artículo científico publicado en 2009

Sleep but not hyperventilation increases the sensitivity of the EEG in patients with temporal lobe epilepsy

artículo científico publicado en 2003

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic Variants

scientific article published on 21 March 2022

Sustained seizure remission on perampanel in progressive myoclonic epilepsy (Lafora disease).

artículo científico publicado en 2013

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria

article

The LaLiMo Trial: lamotrigine compared with levetiracetam in the initial 26 weeks of monotherapy for focal and generalised epilepsy--an open-label, prospective, randomised controlled multicenter study

artículo científico

The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures

artículo científico publicado en 2017

The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy

artículo científico publicado en 2021

The role of mTOR inhibitors in preventing epileptogenesis in patients with TSC: Current evidence and future perspectives

article published in 2018

Trends in resource utilization and prescription of anticonvulsants for patients with active epilepsy in Germany from 2003 to 2013 — A ten-year overview

article

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

scientific article published on 29 October 2019

Use of Emergency Medication in Adult Patients with Epilepsy: A Multicentre Cohort Study from Germany

article

[Brivaracetam for add-on treatment in focal epilepsy].

artículo científico publicado en 2016

Lista de obras de Karl Martin Klein

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

A commonSCN1Asplice-site polymorphism modifies the effect of carbamazepine on cortical excitability-A pharmacogenetic transcranial magnetic stimulation study

A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence

Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia.

Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26.

Brivaracetam in the treatment of focal and idiopathic generalized epilepsies and of status epilepticus.

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany

Efficacy, Retention, and Tolerability of Brivaracetam in Patients With Epileptic Encephalopathies: A Multicenter Cohort Study From Germany

Eslicarbazepine acetate as a therapeutic option in a patient with carbamazepine-induced rash and HLA-A*31:01.

Evidence for genetic factors in vasovagal syncope: a twin-family study

Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum

Genetic variation in CFH predicts phenytoin-induced maculopapular exanthema in European-descent patients

Genetics of vasovagal syncope

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

Intravenous lacosamide for treatment of absence status epilepticus in genetic generalized epilepsy: A case report and review of literature.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Invasive EEG-electrodes in presurgical evaluation of epilepsies: Systematic analysis of implantation-, video-EEG-monitoring- and explantation-related complications, and review of literature

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

New aspects in the field of epilepsy

Non-invasive EEG evaluation in epilepsy diagnosis.

Personalized translational epilepsy research - Novel approaches and future perspectives: Part I: Clinical and network analysis approaches.

Personalized translational epilepsy research - Novel approaches and future perspectives: Part II: Experimental and translational approaches.

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

Postmarketing experience with brivaracetam in the treatment of epilepsies: A multicenter cohort study from Germany.

Precision medicine in genetic epilepsies: break of dawn?

Prescribing practice of pregabalin/gabapentin in pain therapy: an evaluation of German claim data

Primary care electronic medical records can be used to predict risk and identify potentially modifiable factors for early and late death in adult onset epilepsy

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

Sleep but not hyperventilation increases the sensitivity of the EEG in patients with temporal lobe epilepsy

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic Variants

Sustained seizure remission on perampanel in progressive myoclonic epilepsy (Lafora disease).

The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria

The LaLiMo Trial: lamotrigine compared with levetiracetam in the initial 26 weeks of monotherapy for focal and generalised epilepsy--an open-label, prospective, randomised controlled multicenter study

The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures

The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy

The role of mTOR inhibitors in preventing epileptogenesis in patients with TSC: Current evidence and future perspectives

Trends in resource utilization and prescription of anticonvulsants for patients with active epilepsy in Germany from 2003 to 2013 — A ten-year overview

Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Use of Emergency Medication in Adult Patients with Epilepsy: A Multicentre Cohort Study from Germany

[Brivaracetam for add-on treatment in focal epilepsy].