Familial early infantile epileptic encephalopathy and cardiac conduction disorder: A rare cause of SUDEP in infancy Dilsad Turkdogan, Sunay Usluer, Figen.

Slides:

Advertisements

Similar presentations

Nonconvulsive status epilepticus in patients with brain tumors

Advertisements

Peter L. Fisher, Adam J. Noble Seizure - European Journal of Epilepsy

Ian Morrison, Saif S.M. Razvi Seizure - European Journal of Epilepsy

Measurement of levetiracetam drug levels to assist with seizure control and monitoring of drug interactions with other anti-epileptic medications (AEMs)

The effects of levetiracetam on urinary 15f-2t-isoprostane levels in epileptic patients Hilmi Ozden, Sibel Canbaz Kabay, Aysun Toker, Mehmet Cengiz Ustüner,

Vagus nerve stimulation in pediatric epileptic syndromes

Seizure-Induced Myocardial Stunning: A Possible Cardiac Link to Sudden Unexpected Death In Epilepsy (SUDEP) Saif Al-Najafi, Howard Rosman Seizure -

M. Dupuis, K. van Rijckevorsel, F. Evrard, N. Dubuisson, F. Dupuis, P

Alberto Espeche, Ricardo Cersosimo, Roberto Horacio Caraballo

Perri Carlson, Kathryn Nicholson Perry

Antiepileptic drug therapy the story so far

Does ghrelin level change after epileptic seizure in rats?

Has disability discrimination legislation changed the legal framework for epilepsy in the United Kingdom? Philip Lee Seizure - European Journal of Epilepsy

Mesial temporal lobe epilepsy associated with KCNT1 mutation

Oxcarbazepine administration and the serum levels of homocysteine, vitamin B12 and folate in epileptic patients: A systematic review and meta-analysis

Daniel Weber, David McCarthy, Jay Pathmanathan

How are epileptic events linked to obstructive sleep apneas in epilepsy? Vi-Huong Nguyen-Michel, Olivier Pallanca, Vincent Navarro, Sophie Dupont, Michel.

Presentation of adult mitochondrial epilepsy

Do epilepsy specialist nurses use a similar history-taking process as consultant neurologists in the differential diagnosis of patients presenting with.

Anshuman Sengupta, Ali Mahmoud, Shwe Z. Tun, Peter Goulding

Non-EEG seizure-detection systems and potential SUDEP prevention: State of the art Anouk Van de Vel, Kris Cuppens, Bert Bonroy, Milica Milosevic, Katrien.

S. Kılınç, C. Campbell Seizure - European Journal of Epilepsy

Four types of traditional Chinese medicine inducing epileptic seizures

Four types of traditional Chinese medicine inducing epileptic seizures

Seizure - European Journal of Epilepsy

Reversible homonymous hemianopia secondary to occipital lobe seizures

Smoking reduces serum levels of lamotrigine

Pediatric first time non-febrile seizure with focal manifestations: Is emergent imaging indicated? N. Aprahamian, M.B. Harper, S.P. Prabhu, M.C. Monuteaux,

The experience of adjusting to a diagnosis of non-epileptic attack disorder (NEAD) and the subsequent process of psychological therapy Caroline Wyatt,

Psychogenic non-epileptic seizures—Definition, etiology, treatment and prognostic issues: A critical review N.M.G. Bodde, J.L. Brooks, G.A. Baker, P.A.J.M.

Depression and anxiety in childhood epilepsy: A review

What patients say about living with psychogenic nonepileptic seizures: A systematic synthesis of qualitative studies Gregg H. Rawlings, Markus Reuber

Milder phenotype with SCN1A truncation mutation other than SMEI

Self-management interventions for epilepsy in people with intellectual disabilities: A scoping review Michelle Dannenberg, Silvana E. Mengoni, Bob Gates,

Fracture risk with use of liver enzyme inducing antiepileptic drugs in people with active epilepsy: Cohort study using the General Practice Research Database

Janelle L. Wagner, Gigi Smith, Pamela Ferguson

Use of the Precaution Adoption Process Model to examine predictors of osteoprotective behavior in epilepsy John O. Elliott, Brenda F. Seals, Mercedes.

Seizure - European Journal of Epilepsy

Francesco Brigo, Raffaele Nardone, Luigi Giuseppe Bongiovanni

Epileptic spasms: Evidence for oral corticosteroids and implications for low and middle income countries Sharika V. Raga, Jo M. Wilmshurst Seizure -

Ali A. Asadi-Pooya, Mehrdad Emami, Alireza Nikseresht

Status epilepticus secondary to glioma

Non-EEG seizure-detection systems and potential SUDEP prevention: State of the art Anouk Van de Vel, Kris Cuppens, Bert Bonroy, Milica Milosevic, Katrien.

Oliver Faust, U. Rajendra Acharya, Hojjat Adeli, Amir Adeli

Peter L. Fisher, Adam J. Noble Seizure - European Journal of Epilepsy

Seizures in encephalitis: Predictors and outcome

Early treatment after stroke for the prevention of late epileptic seizures: A report on the problems performing a randomised placebo-controlled double-blind.

Whole exome sequencing identified a novel missense mutation in EPM2A underlying Lafora disease in a Pakistani family Zain Aslam, Eungi Lee, Mazhar Badshah,

Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy Lehong Gao, Liping Li,

Sudden death in epilepsy: Insights from the last 25 years

New SCN5A mutation in a SUDEP victim with idiopathic epilepsy

Milen Pavlović, Nebojša Jović, Tatjana Pekmezović

Milen Pavlović, Nebojša Jović, Tatjana Pekmezović

Anina du Toit, Chrisma Pretorius

Familial temporal lobe epilepsy in the 19th century

Zhidong Cen, Yuting Lou, Yufan Guo, Jianda Wang, Jianhua Feng

The effects of levetiracetam on urinary 15f-2t-isoprostane levels in epileptic patients Hilmi Ozden, Sibel Canbaz Kabay, Aysun Toker, Mehmet Cengiz Ustüner,

Antiepileptic drug use in Austrian nursing home residents

Lindsey Hunter, Peter Sidebotham, Richard Appleton, Colin Dunkley

Examining a community model of epilepsy care for people with learning disabilities M. Reuber, J. Gore, J. Wolstenhome, P. Jonas, C. Frankson, C. Murray,

Seizure - European Journal of Epilepsy

Association of the genetic polymorphisms in pre-microRNAs with risk of childhood epilepsy in a Chinese population Yang Li, Jinqiu Wang, Chunming Jiang,

Eser Basak Sevgi, Serap Saygi, Abdurrahman Ciger

Benjamin Cretin, Nathalie Philippi

Evaluation of a self-regulation based psycho-educational pilot intervention targeting children and adolescents with epilepsy in Greece Ioanna Rizou,

Use and costs of concomitant medicines in epileptic patients in Poland: A 12-month prospective multicentre study Beata Majkowska-Zwolińska, Joanna Jędrzejczak,

A novel EPM2A mutation in a patient with Lafora disease presenting with early parkinsonism symptoms in childhood Edibe Pembegul Yildiz, Gozde Yesil,

R. Singh, S. Jayapal, S. Goyal, H. Jungbluth, K. Lascelles

Frequent intragenic microdeletions of elastin in familial supravalvular aortic stenosis Satoshi Hayano, Yusuke Okuno, Makiko Tsutsumi, Hidehito Inagaki,

Ellen Pfendner, Jouni Uitto Journal of Investigative Dermatology

Presentation transcript:

Familial early infantile epileptic encephalopathy and cardiac conduction disorder: A rare cause of SUDEP in infancy Dilsad Turkdogan, Sunay Usluer, Figen Akalin, Umut Agyuz, Elif Sibel Aslan Seizure - European Journal of Epilepsy Volume 50, Pages 171-172 (August 2017) DOI: 10.1016/j.seizure.2017.06.019 Copyright © 2017 British Epilepsy Association Terms and Conditions

Fig. 1 Family pedigree. Affected individuals are shown as black, mutation carriers are denoted with a black dot. m, represent mutated allele i.e. GNB5 c.355delG and+represents normal allele. Individuals selected for whole exome sequencing are marked with a star. Right panel is showing the chromatograph of GNB5 c.355delG single nucleotide deletion in homozygous (upper) and heterozygous (bottom) state. Seizure - European Journal of Epilepsy 2017 50, 171-172DOI: (10.1016/j.seizure.2017.06.019) Copyright © 2017 British Epilepsy Association Terms and Conditions