• Disease
  • Dravet
  • Dravet Syndrome
  • Nur Aydınli̇

    Prominent publications by Nur Aydınli̇

    KOL Index score: 7390

    Dravet syndrome is a rare and progressive epileptic encephalopathy of infancy. Stiripentol reduces the seizure frequency in patients with Dravet syndrome. We evaluated the clinical characteristics of patients with Dravet syndrome and their response to stiripentol. We retrospectively collected the data of 21 patients (11 females; mean age, 8.2 years, range: 5.4-15 years) with Dravet syndrome who were treated with stiripentol in our outpatient clinic between June 2016 and June 2017. ...

    Also Ranks for: Dravet Syndrome |  status epilepticus |  stiripentol treatment |  seizure frequency |  epilepsies myoclonic
    KOL Index score: 6712

    The purpose of this study was to evaluate positron emission tomography (PET) findings in patients diagnosed with infantile spasms and autism. This study includes 90 patients who were diagnosed with infantile spasms at the Department of Pediatric Neurology in the Istanbul University Medical Faculty between 1995 and 2007. Of the 90 patients, 15 patients who were diagnosed with autism using the Autism Behaviour Checklist and Childhood Autism Rating Scale and a control group of nine patients ...

    Also Ranks for: Infantile Spasms |  emission tomography |  frontal lobe |  2 years |  autism study
    KOL Index score: 5834

    Population-based studies report that children with epilepsy have relatively better prognosis than those with an onset at infancy, though studies about this period are limited. We aimed to evaluate the etiology in infant epilepsy less than 2 years of age and foreseeable risk factors for anti-epileptic drug resistance. We evaluated the patients who were presented to the division of pediatric neurology in our university hospital with seizures when they were between 1 and 24 months of age ...

    Also Ranks for: Resistant Epilepsy |  tertiary center |  status epilepticus |  developmental delay |  factors drug
    KOL Index score: 5764

    Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), a rare disorder caused by mutation in the ASAH1 gene, is characterized by progressive muscle weakness and intractable epilepsy. The literature about SMA-PME is very rare and most of the time limited to case reports. Mutation in the ASAH1 gene is also found in another rare syndrome which is Farber disease. We report a case of a 13.5-year-old girl with SMA-PME associated with ASAH1 gene mutation. She presented with ...

    Also Ranks for: Spinal Muscular Atrophy |  progressive myoclonic epilepsy |  farber disease |  asah1 gene |  sma pme
    KOL Index score: 5509

    Thirteen infants with congenital brachial plexus palsy (eight with upper, five with upper and lower) were monitored by magnetic resonance imaging (the first performed between 7 and 41 days of age and the second at 3 months of age), electromyography (the first performed between 27 and 50 days and the second at 3 months), and the muscle scoring system of the Hospital for Sick Children (at 3, 6, and 9 months of age). The findings were evaluated with respect to the clinical status of the ...

    Also Ranks for: Brachial Plexus |  3 months |  root avulsion |  resonance imaging |  sick children
    KOL Index score: 4928

    The aim of this study was to evaluate the thyroid function alterations in a group of epileptic children taking antiepileptic drugs (AEDs). Patients demographic data and the free throxine (fT4) and thyroid-stimulating hormone (TSH) levels at the beginning of the treatment and at the third, sixth and ninth months of AED treatment were recorded retrospectively. A total of 106 children, 59 males and 47 females, were enrolled in the study. Mean patient age was 3.7 years, ranging between 3 ...

    Also Ranks for: Thyroid Hormones |  antiepileptic therapy |  epileptic children |  valproic acid |  tsh levels
    KOL Index score: 4893

    Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). Here, we report a detailed cross-sectional analysis of clinical, imaging and molecular data of 156 patients from 101 families. Enrolled patients were of diverse ethnic backgrounds and covered a wide age range ...

    Also Ranks for: Spastic Paraplegia |  adaptor protein |  complex 4 |  corpus callosum |  clinical molecular
    KOL Index score: 4218

    This study evaluated etiologic and risk factors affecting long-term prognoses of neurologic outcomes in newborns with neonatal seizures. We enrolled patients at chronologic ages of 23-44 months, referred to the Department of Pediatric Neurology, Istanbul Medical Faculty, from January 1, 2007-December 31, 2009, after manifesting seizures in their first postnatal 28 days. Of 112 newborns, 41 were female, 71 were male, 33 were preterm, and 79 were full-term. Perinatal asphyxia (28.6%) and ...

    Also Ranks for: Neonatal Seizures |  neurologic outcomes |  developmental delay |  gestational age |  apgar score
    KOL Index score: 4166

    Floppiness in an infant may have a number of different etiologies from disorders of the brain to spinal cord lesions, neuropathies, neuromuscular junction disorders and myopathies. In this study we aimed to investigate the correlation of muscle ultrasonography (US) and electromyography (EMG) in the diagnosis of floppy infants. The study encompassed 41 floppy infants aged 2-24 months. The muscle US and EMG examinations were performed without awareness of the clinical diagnosis. The final ...

    Also Ranks for: Muscle Ultrasonography |  floppy infants |  central hypotonia |  spinal muscular |  diagnosis differential
    KOL Index score: 4096

    Our objective was to characterize the etiologic factors and outcome for stroke in children. We retrospectively reviewed the charts of patients between the ages of 40 days and 94 months (36.5 +/- 23.7 months) with stroke seen at Istanbul Medical Faculty, Department of Pediatrics between January 1995 and December 2003. We found 79 cases of stroke: 57 ischemic and 22 hemorrhagic strokes. Seventeen children had vitamin K deficiency dependent hemorrhage. In 14 children stroke occurred as a ...

    Also Ranks for: Stroke Children |  factor leiden |  cardiac disease |  infant male
    KOL Index score: 3971

    A retrospective study is presented of the clinical features and outcome of late onset haemorrhagic disease due to vitamin K deficiency in 11 babies who were admitted to the emergency or child neurology unit during a 4-year period (January 1994-December 1997). The disease occurred in infants between 30 and 119 days of age (mean: 56+/-24 days). None of them received vitamin K after birth and all were breastfed. The presenting complaints were seizures (91%), drowsiness (82%), poor sucking ...

    Also Ranks for: Intracranial Haemorrhage |  late onset |  vitamin deficiency |  poor sucking |  retrospective studies
    KOL Index score: 3827

    Cranial computed tomography (CT) or magnetic resonance imaging (MRI), or both, of 143 patients with West syndrome were retrospectively reviewed. Twenty-four children had normal CT scans. The most striking findings on pathologic scans were cerebral atrophy, ventricular enlargement, and encephalomalacia. Of 78 children who underwent MRI, 14 had normal scans. Cerebral malformations, cerebral atrophy, and delayed myelination were the most common pathologic findings and were observed in 25, ...

    Also Ranks for: West Syndrome |  cerebral atrophy |  delayed myelination |  infantile tomography |  imaging mri
    KOL Index score: 3784

    OBJECTIVE: Developmental delay is a common pediatric problem, having a great number of underlying causal factors. Etiologic diagnosis is important for providing information about pathogenesis, prognosis, recurrence risk and specific medical interventions. The aim of this study was to determine the etiologic yield and spectrum of a consecutive cohort of global developmentally delayed children.

    METHODS: This retrospective study included all children younger than 5 years of age with global ...

    Also Ranks for: Developmental Delay |  etiologic diagnosis |  physical examination |  initial evaluation |  children global
    KOL Index score: 3760

    Antiepileptic drugs (AED) have potential side effects through vitamin-D. Prevalence of vitamin D insufficiency and potential risk factors for the longitudinal changes of vitamin D levels compared to its baseline levels under AED treatment were investigated in this study. This retrospective study includes patients whose AED therapy were started in only autumn months, between 2000 and 2014. Detailed assessment of neurologic diagnosis and brain MRI findings, ambulatory status, types and ...

    Also Ranks for: Antiepileptic Drugs |  vitamin levels |  potential risk factors |  longitudinal 25ohd |  alkaline phosphatase


    Nur Aydınli̇: Influence Statistics

    Sample of concepts for which Nur Aydınli̇ is among the top experts in the world.
    Concept World rank
    365 237 months #2
    22 hemorrhagic strokes #2
    hemiplegia chickenpox #3
    79 stroke patients #4
    stroke istanbul #5
    stiripentol seizure frequency #5
    istanbul medical faculty #7
    epilepticus developmental #7
    medicine epileptic #12
    hypohidrosis hyperthermia #16
    seizures rufinamide #17
    dravet syndrome stiripentol #17
    status epilepticus 95 #20
    dre epilepsy electroencephalography #22
    infant epilepsy #22
    lissencephaly brain #26
    longitudinal 25ohd #27
    etiologic yield #29
    floppy infants #30
    pachygyria lissencephaly #32
    thyroid function alterations #33
    congenital brachial #34
    79 stroke #39
    meningeal syndrome #42
    outcome 79 #49
    aims correlation #49
    persistent neurologic deficit #53
    sma pme #53
    onset intracranial #55
    factors dre #56
    passive neck #57
    etiologic evaluation #60
    stroke turkey #66
    stiripentol treatment #68
    smapme #71
    congenital torticollis #72
    panencephalitis presenting #73
    seizures spasm #94
    poor sucking #97
    localizationrelated epilepsies #98

    Key People For Dravet Syndrome

    Top KOLs in the world
    Ingrid Eileen Scheffer
    dravet syndrome febrile seizures intellectual disability
    Charlotte Dravet
    dravet syndrome myoclonic epilepsy status epilepticus
    Rima C Nabbout
    dravet syndrome tuberous sclerosis complex infantile spasms
    Renzo Guerrini
    dravet syndrome cortical development epilepsy surgery
    Sameer M Zuberi
    dravet syndrome task force international league
    Lieven G Lagae
    dravet syndrome tuberous sclerosis complex absence epilepsy

    Nur Aydınli̇:Expert Impact

    Concepts for whichNur Aydınli̇has direct influence:Dravet syndrome,  Infantile spasms,  Centrotemporal spikes,  West syndrome,  Status epilepticus,  Antiepileptic drugs,  Periventricular leukomalacia,  Developmental delay.

    Nur Aydınli̇:KOL impact

    Concepts related to the work of other authors for whichfor which Nur Aydınli̇ has influence:Neonatal seizures,  Infantile spasms,  Congenital muscular torticollis,  Brachial plexus,  Antiepileptic drugs,  Cerebral palsy,  Intracranial hemorrhage.



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    Division of Pediatric Neurology, Department of Pediatrics, İstanbul University Faculty of Medicine, İstanbul, Turkey. | Pediatric Genetics, Department of Pediatrics, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey | Istanbul Faculty of Medi