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Guide to Pharmacology

Guide to Pharmacology

What Is GABRR2

GABRR2 is a gene that provides instructions for making a protein called gamma-aminobutyric acid (GABA) receptor subunit rho-2. GABA receptors are protein complexes found in the brain that are important for regulating the activity of neurons.

The GABRR2 gene is responsible for producing the rho-2 subunit, which is a component of GABA receptors. These receptors act like gatekeepers for neurons, controlling their communication and electrical activity. Read More

Symptoms of GABRR2?

  1. Neurodevelopmental Disorder: Neurodevelopmental disorders are conditions that affect the development of the brain and nervous system. These disorders can cause difficulties in how a person thinks, learns, behaves, or interacts with others. Examples of neurodevelopmental disorders include autism spectrum disorder, attention-deficit/hyperactivity disorder (ADHD), and intellectual disability. These conditions often start early in childhood and can affect a person throughout their life.
  2. Seizures: variations or mutations in the GABRR2 gene have been associated with an increased risk or susceptibility to seizures. As a consequence, individuals with GABRR2 gene variations may have a lower threshold for experiencing seizures. This means that they are more susceptible to having seizures triggered by various factors, such as stress, sleep deprivation, flashing lights, or certain medications.
  3. Poor language skills generally refer to difficulties or limitations in various aspects of language development and use. It can manifest in different ways depending on the specific language skills affected. Here are some common characteristics associated with poor language skills:
  4. Expressive Language Difficulties: People with poor language skills may struggle to express themselves effectively. They might have trouble finding the right words, constructing sentences, or organizing their thoughts. Their speech may be limited, hesitant, or contain grammatical errors.
  5.  Difficulties in Social Communication: Language plays a crucial role in social interactions. Poor language skills can impact communication in social settings, making it difficult to initiate or maintain conversations, understand social cues, or express emotions effectively.
  6. Poor Verbal Reasoning: Language skills are closely linked to cognitive abilities, including verbal reasoning. Individuals with poor language skills may find it challenging to understand abstract concepts, make logical connections, or engage in complex conversations.
  7. Vocabulary Limitations: Limited vocabulary is often observed in individuals with poor language skills. They may have a smaller repertoire of words, struggle with word retrieval, or have difficulties learning and retaining new words.
  8. Receptive Language Difficulties: Poor language skills can also impact understanding and comprehension of spoken or written language. Individuals may have difficulty following instructions, comprehending complex sentences, or grasping the meaning of words and concepts.

Loss of Hand Skills:

  1. Loss of Fine Motor Control: Children with GABRR2 experience a progressive loss of fine motor control. Skills that were previously acquired, such as grasping objects, pointing, or using utensils, may gradually deteriorate.
  2. Hand Apraxia: Apraxia refers to difficulties in planning and executing voluntary movements. Hand apraxia can affect the ability to perform purposeful hand actions, such as reaching for objects, picking up items, or manipulating toys.
  3. Hand Regression: Regression in hand skills, where previously acquired abilities are lost or significantly impaired. This regression can be one of the hallmark features of the condition.

Developmental and epileptic encephalopathy is a term used to describe a group of serious brain disorders that affect how a person’s brain develops and causes both epilepsy (repeated seizures) and developmental problems. These conditions usually start to show symptoms in babies or young children, and they can cause significant difficulties with thinking, movement, and behavior.

Ventriculomegaly is a medical term used to describe the enlargement of fluid-filled spaces within the brain called ventricles. In a healthy brain, these ventricles are present and filled with cerebrospinal fluid, which helps cushion and protect the brain.

When someone has ventriculomegaly, it means that these ventricles have become larger than normal. This condition can occur for various reasons, including genetic factors, infections, or other underlying issues.

Ventriculomegaly can be identified through medical imaging techniques, such as ultrasound or MRI scans. The severity of ventriculomegaly can vary, ranging from mild cases where there is only a slight enlargement to more severe cases where the ventricles are significantly expanded.

In some instances, ventriculomegaly may not cause any noticeable symptoms or health problems. However, in other cases, it can be associated with certain developmental or neurological conditions.

Inability to walk: Walking requires coordinated movements of the muscles, nerves, and brain. When there is a genetic mutation that impacts these components, it can disrupt the proper functioning of the motor system and impair the ability to walk.

Children with developmental and epileptic encephalopathy often experience seizures, which are episodes of abnormal electrical activity in the brain that can lead to various types of physical symptoms or changes in behavior. Alongside seizures, these children may also have challenges with their overall development, such as delays in learning, problems with movement and coordination, and changes in behavior.

These conditions can have a significant impact on a child’s daily life and may require ongoing medical care, therapies, and support to address their cognitive (thinking and learning), motor (movement and coordination), and behavioral challenges.

It’s important to note that developmental and epileptic encephalopathy is a complex group of disorders, and each individual’s experience can vary. If you suspect that your child or someone you know may be affected by developmental and epileptic encephalopathy, it is essential to consult with a healthcare professional who can provide a proper diagnosis and guidance for managing the condition.

Disclaimer: It is important to note that our understanding of GABA A Variants and their associated symptoms is an ongoing area of research. As of now, there may still be limited information available regarding the specific symptoms and implications of these genetic variations. It is recommended to consult with healthcare professionals or genetic specialists, and stay updated with the latest scientific research, as ongoing studies and advancements may provide further insights into GABA A Variants and their related symptoms.

Cure GABA A Variants non-profit and does not provide medical advice. It is intended for informational purposes only. It is not a substitute for professional medical advice, diagnosis or treatment. It does not diagnose, it produces a ranked list of suspected genes which provide assistance for rare hereditary disease cases. Patients should discuss their findings with their healthcare provider. Cure GABA A Variants does not intend to diagnose patients. It is providing information in order for patients to find and get better management of expert certified clinical assistance.