BTProf. Dr. Burak TatlıÇocuk Nörolojisi ve Gelişim

Condition library

Understanding paediatric neurology conditions

Clear, up-to-date explainers on the conditions our specialists review most often — including the latest research and emerging therapies. Each page is educational: it helps you understand a condition and prepare questions, and never replaces your treating clinician. This library will keep growing.

49 results

Epilepsies

Dravet syndrome

A severe, SCN1A-related developmental and epileptic encephalopathy — with a fast-moving precision-medicine pipeline.

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Neurogenetic syndromes

Angelman syndrome

A UBE3A-related neurodevelopmental disorder — with antisense (ASO) therapies now in Phase 3 trials.

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Neurogenetic syndromes

Rett syndrome

An MECP2-related disorder with the first approved medicine (trofinetide) — and MECP2 gene therapies now in registrational trials.

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Movement & motor

Cerebral palsy

The most common physical disability of childhood — where early detection, structured rehabilitation and orthopaedic care matter most, alongside emerging experimental therapies.

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Neurodevelopmental

Autism spectrum disorder

A common, highly genetic neurodevelopmental condition — where early recognition, evidence-based support and honest appraisal of newer therapies matter most.

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Epilepsies

West syndrome (infantile spasms)

An infancy-onset epilepsy emergency — where how quickly the spasms are recognised and stopped strongly shapes a child's development.

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Epilepsies

Febrile seizures (febrile convulsions)

The most common seizures of early childhood — frightening to witness, but usually harmless with an excellent outlook.

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Epilepsies

SCN2A-related disorders

An SCN2A (NaV1.2) condition spanning early epileptic encephalopathy and autism — where the type of variant decides treatment, and a precision antisense therapy is now in trials.

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Movement & motor

Tic disorders and Tourette syndrome

Common, fluctuating movements and sounds that are involuntary — usually best helped by understanding, behavioural therapy and, when needed, medication.

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Epilepsies

Autoimmune-associated epilepsy

Seizures driven by the immune system attacking the brain — where recognising the cause early can change treatment from antiseizure medicines to immunotherapy.

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Epilepsies

mTOR-pathway epilepsies (mTORopathies)

Drug-resistant focal epilepsies caused by overactive mTOR signalling — where surgery and targeted mTOR inhibitors are reshaping treatment.

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Epilepsies

GRIN-related neurodevelopmental disorders

NMDA-receptor (GRIN) conditions where, as in SCN2A, the direction of the variant decides treatment — and targeted therapies are now in Phase 3.

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Epilepsies

Doose syndrome (myoclonic-atonic epilepsy)

A childhood generalized epilepsy with 'drop' seizures — often strikingly responsive to the ketogenic diet, with a variable but frequently good outlook.

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Epilepsies

Absence epilepsy

Brief 'blank' staring spells with a characteristic EEG — usually well controlled, with childhood absence epilepsy carrying a good outlook.

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Epilepsies

Juvenile myoclonic epilepsy (JME)

A common teenage-onset epilepsy with morning jerks — usually very treatable, but typically lifelong and sensitive to sleep and lifestyle.

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Epilepsies

PCDH19 clustering epilepsy

An X-linked epilepsy that mainly affects girls in fever-triggered clusters — with a neurosteroid (ganaxolone) showing targeted benefit in trials.

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Neurogenetic syndromes

Tuberous sclerosis complex (TSC)

A multi-system genetic condition driven by overactive mTOR — where preventive treatment, mTOR inhibitors and CBD have transformed care.

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Neurogenetic syndromes

Fragile X syndrome

The most common inherited cause of intellectual disability and a leading single-gene cause of autism — where targeted drug trials continue despite setbacks.

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Movement & motor

Developmental coordination disorder (DCD / dyspraxia)

A common but under-recognised difficulty with coordination and motor skills — where the right activity-focused support builds confidence and participation.

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Sleep & paroxysmal

Sleep problems in children (by age)

What healthy sleep looks like at each stage — from newborns to teenagers — and how common sleep problems are recognised and treated.

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Sleep & paroxysmal

Non-epileptic paroxysmal events (seizure mimics)

Sudden, repeated 'spells' that look like seizures but are not epilepsy — common at every age, often benign, and frequently misdiagnosed.

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Neurogenetic syndromes

Pitt-Hopkins syndrome

A rare TCF4-related condition with intellectual disability, distinctive breathing episodes, and an unusually active research pipeline — gene therapy and a targeted drug both reaching trials in 2025–2026.

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Epilepsies

STXBP1 developmental and epileptic encephalopathy

A genetic DEE caused by loss of one STXBP1 copy — with active gene-therapy and ASO programmes, but lessons in 2025 about how cautiously these must be tested.

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Neurogenetic syndromes

KBG syndrome

An under-recognised ANKRD11 syndrome with a distinctive face, large upper front teeth and developmental delay — usually managed symptomatically, with no targeted therapy in trials today.

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Epilepsies

GNAO1 encephalopathy

A rare GNAO1-related condition that combines severe developmental delay, epilepsy and prominent dyskinetic movements — with the first allele-specific ASO trial starting in 2025.

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Stroke & cerebrovascular

Pediatric and fetal stroke

Stroke does happen in babies and children — and the field has changed quickly: thrombectomy is now an option in selected childhood strokes, and the first cord-blood and erythropoietin trials are reading out in 2025–2026.

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Neurodevelopmental

Attention-Deficit / Hyperactivity Disorder (ADHD)

A common, treatable neurodevelopmental condition with the strongest evidence base in paediatric psychiatry — and a growing landscape of digital, neuromodulation and next-generation drug options alongside the classic stimulants.

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Epilepsies

Neonatal seizures

Seizures in the first 28 days of life — most often acute symptomatic of a brain injury, identified electrographically, and treated under the 2021 ILAE neonatal classification.

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Epilepsies

Panayiotopoulos syndrome

A common, self-limited childhood epilepsy with striking autonomic seizures (vomiting, eye deviation, pallor) — almost always with a benign outcome and often without daily medication.

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Epilepsies

Self-limited epilepsy with centrotemporal spikes (SeLECTS / Rolandic epilepsy)

The classic 'benign Rolandic' epilepsy of school-age children — focal sleep-related seizures with face and speech features, a characteristic EEG, and resolution by mid-teens.

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Epilepsies

Lennox-Gastaut syndrome (LGS)

A severe childhood-onset developmental and epileptic encephalopathy defined by multiple seizure types, slow spike-and-wave EEG and intellectual disability — with cannabidiol, fenfluramine and newer trial agents reshaping treatment.

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Epilepsies

Landau-Kleffner syndrome and electrical status epilepticus in sleep (ESES / CSWS)

A rare childhood epileptic encephalopathy in which a previously well child loses language (or other cognitive functions) over weeks to months, with a striking sleep-EEG of near-continuous spike-and-wave.

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Epilepsies

Sturge-Weber syndrome

A neurocutaneous disorder — facial port-wine birthmark, leptomeningeal angiomatosis, often epilepsy and glaucoma — caused by a somatic GNAQ mutation, with low-dose aspirin and targeted treatments now standard.

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Headache

Migraine in children and adolescents

The commonest cause of recurrent headache in children — under-recognised, very treatable, and now with paediatric-specific CGRP-targeted therapies entering practice from 2024 onwards.

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Headache

Idiopathic intracranial hypertension (paediatric)

Raised intracranial pressure of unknown cause — a sight-threatening but treatable condition seen most often in adolescent girls with rapid weight gain, requiring urgent papilloedema detection.

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Neurogenetic syndromes

Neurofibromatosis type 1 (NF1)

The commonest neurogenetic syndrome of childhood — café-au-lait macules, neurofibromas, learning differences, optic pathway gliomas and a 30–50% chance of plexiform neurofibromas now targetable with MEK inhibitors.

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Neurogenetic syndromes

22q11.2 deletion syndrome (DiGeorge / velocardiofacial syndrome)

The most common chromosomal microdeletion syndrome — congenital heart disease, immune deficiency, hypocalcaemia, learning difficulties and a high lifetime risk of psychiatric illness, with screening for psychosis from adolescence.

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Neuromuscular

Spinal muscular atrophy (SMA)

A genetic motor-neurone disease where three disease-modifying therapies — nusinersen, onasemnogene abeparvovec and risdiplam — have transformed a previously fatal condition into a treatable one when started before symptoms.

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Neuromuscular

Duchenne muscular dystrophy (DMD)

The commonest severe childhood muscular dystrophy — caused by loss of dystrophin — now in a transformative era with corticosteroids, exon-skipping antisense, and first-generation AAV micro-dystrophin gene therapy (delandistrogene moxeparvovec, FDA-approved 2023).

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Neuromuscular

Friedreich ataxia

The most common inherited ataxia of childhood and adolescence — caused by a GAA trinucleotide expansion in FXN — now with the first disease-modifying drug, omaveloxolone (Skyclarys), approved in 2023.

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Neuroinflammatory

Anti-NMDA receptor encephalitis

The most common antibody-mediated autoimmune encephalitis in children — often presenting with sudden psychiatric symptoms, then movement disorders, seizures and reduced consciousness, with very good outcomes after early immunotherapy.

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Neuroinflammatory

Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD)

A distinct demyelinating disease — separate from multiple sclerosis and from NMOSD — defined by IgG antibodies against MOG, with a relapsing-monophasic spectrum, often-good outcomes, and 2023 international diagnostic criteria.

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Neuroinflammatory

Acute disseminated encephalomyelitis (ADEM)

A monophasic, post-infectious or post-immunisation multifocal demyelinating illness — encephalopathy plus multifocal CNS signs — usually with full recovery after high-dose steroids.

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Neuroinflammatory

Paediatric multiple sclerosis

A demyelinating disease that affects roughly one in 30 MS patients — usually adolescent-onset, often relapsing-remitting from the outset, with modern early high-efficacy treatment producing good long-term outcomes.

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Epilepsies

SYNGAP1-related neurodevelopmental disorder

A monogenic developmental and epileptic encephalopathy — intellectual disability with a characteristic epilepsy and autism phenotype, and one of the most actively studied genetic synaptopathies.

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Epilepsies

SCN8A-related disorders

A spectrum of SCN8A-related epilepsies — from severe early-infantile developmental and epileptic encephalopathy to milder familial epilepsies — with sodium-channel-blocker therapy as a precision-medicine anchor.

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Movement disorders

Alternating hemiplegia of childhood (AHC)

A rare, severe paroxysmal disorder of childhood — episodes of alternating hemiplegia, dystonia, oculomotor abnormalities and epilepsy, most often caused by ATP1A3 mutations.

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Genetic syndromes

Prader-Willi syndrome

A complex genomic-imprinting disorder of chromosome 15q11-q13 — neonatal hypotonia and feeding difficulty, then hyperphagia, obesity risk, intellectual disability and behavioural and endocrine features.

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Genetic syndromes

Down syndrome (Trisomy 21)

A paediatric-neurology-aware look at Down syndrome — beyond the cardiac and endocrine surveillance, the brain has its own story: developmental support, epilepsy risk, sleep, behaviour, and the lifelong cognitive trajectory.

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