Medical Disclaimer
The information on this page is for educational purposes only and does not constitute medical advice. Every child's case is unique. Consult Dr. Swetha Rampally or a qualified pediatric neurologist for diagnosis and treatment recommendations specific to your child.
Neurogenetic & Metabolic Disorders
Suspected inherited or metabolic causes of seizures, regression, or developmental delay.
“Some childhood neurological conditions are caused by single-gene changes or metabolic enzyme defects. Identifying these is now possible with whole-exome sequencing and biochemical panels - and increasingly, with treatments that can change a child's life when started early.”
కొన్ని బాల్య న్యూరాలజికల్ పరిస్థితులు సింగిల్-జీన్ మార్పులు లేదా మెటబాలిక్ ఎంజైమ్ లోపాల వల్ల వస్తాయి. వీటిని ఇప్పుడు హోల్-ఎక్సోమ్ సీక్వెన్సింగ్ మరియు బయోకెమికల్ ప్యానెల్స్తో గుర్తించడం సాధ్యం - మరియు ముందుగా ప్రారంభించినప్పుడు బిడ్డ జీవితాన్ని మార్చగల చికిత్సలు అందుబాటులో ఉన్నాయి.
Signs to watch for
- Unexplained seizures in infancy
- Regression of skills
- Episodic encephalopathy or coma
- Family history of neurological disease
How we evaluate & treat
- Pre-test counselling for families
- Selected biochemical screens
- Whole-exome & targeted gene panels
- Variant interpretation & long-term plan
Neurogenetic & Metabolic Disorders care near you
Families from adjacent cities can easily coordinate outstation schedules. Same-day clinical Video EEG reports guarantee seamless single-day visits.
Related Conditions We Treat
Epilepsy & Seizures (Fits)
Comprehensive evaluation and management of childhood epilepsies - from first seizure to complex, drug-resistant cases.
Autism Spectrum Disorder
Early identification, diagnostic clarity, and a coordinated plan for therapy and family support.
ADHD & Hyperactivity
Careful diagnosis of attention and behaviour concerns, with realistic plans that work at home and at school.
Need help scheduling an appointment?
Our clinic coordinator is available to answer your questions and guide you through the process.