نتایج جستجو برای: early infantile epileptic encephalopathy

تعداد نتایج: 725871  

Journal: :American journal of medical genetics. Part A 2010
L Giordano S Sartori S Russo P Accorsi J Galli A Tiberti E Bettella M Marchi A Vignoli F Darra A Murgia B Dalla Bernardina

Recently, it has been reported that longer expansions of the polyalanine tract of the ARX gene could cause an early infantile encephalopathy with suppression burst pattern and that the length of this repeat region could be related to the severity of the electroclinical picture. We describe the history of two male individuals, born from monozygotic twin sisters, with Ohtahara syndrome (OS) that ...

Journal: :Seizure-european Journal of Epilepsy 2021

Epileptic syndromes are well-defined conditions comprising particular clinical features [seizure types, age of onset, response to treatment] and characteristic electroencephalographic changes, while their etiology subsequent prognosis may vary. The recognition these is fundamental for pediatric neurology practice, representing an essential learning topic in this field. Nevertheless, many epilep...

Journal: :Neurology 2011
Pawan S Kashyape Katharine Forrest

Suvasini Sharma, DM* Naveen Sankhyan, DM* Konanki Ramesh, MD Sheffali Gulati, MD Epilepsy of infancy with migrating focal seizures is a rare, infantile epileptic encephalopathy characterized by normal early development, refractory focal seizures arising independently from both hemispheres, and severe psychomotor retardation. In the revised terminology by the International League Against Epileps...

2011
Suvasini Sharma

Suvasini Sharma, DM* Naveen Sankhyan, DM* Konanki Ramesh, MD Sheffali Gulati, MD Epilepsy of infancy with migrating focal seizures is a rare, infantile epileptic encephalopathy characterized by normal early development, refractory focal seizures arising independently from both hemispheres, and severe psychomotor retardation. In the revised terminology by the International League Against Epileps...

Journal: :Indian pediatrics 2015
Mahesh Kamate Mayank Detroja

2016
Michael S. Nahorski Masato Asai Emma Wakeling Alasdair Parker Naoya Asai Natalie Canham Susan E. Holder Ya-Chun Chen Joshua Dyer Angela F. Brady Masahide Takahashi C. Geoffrey Woods

Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO) syndrome is a rare Mendelian phenotype comprising severe retardation, early onset epileptic seizures, optic nerve/cerebellar atrophy, pedal oedema, and early death. Atypical cases are often known as PEHO-like, and there is an overlap with 'early infantile epileptic encephalopathy'. PEHO is considered to be recessive...

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